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Q Fever (Coxiella burnetii) Antibodies (IgG, IgM), with Reflex to Titers
*Build Your Own Panel Eligible [?]
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$322 | |
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Description: Caused by infection with rickettsia agent, Coxiella burnetii, Q Fever is characterized by fever with interstitial pneumonitis. Sixty percent of infected individuals are asymptomatic while other infected individuals may die from complications. Categories: Price: $322 |
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QHerit™ 112 Diseases, Female
*Build Your Own Panel Eligible [?]
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$2524 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified X-linked and autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. The male panel that corresponds to this female panel is QHerit 96™ Diseases, Male (Test Code 14227). Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss with a Quest Genetic Counselor.This test analyzes genetic variants associated with 112 conditions in alignment with the American of Medical Genetics and Genomics (ACMG) Tier 3 recommendations [1,2]. Conditions included in this panel: 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); Achromatopsia, CNGB3-related (CNGB3); Adrenoleukodystrophy, X-linked (ABCD1); Aicardi-Goutieres syndrome 2 (RNASEH2B); Alpha-thalassemia (HBA1/HBA2); Argininosuccinic aciduria (ASL); Aspartylglycosaminuria (AGA); Atransferrinemia (TF); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive polycystic kidney disease (PKHD1); Autosomal recessive primary microcephaly 1 (MCPH1); Autosomal recessive spinocerebellar ataxia, type 10 (ANO10); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Beta-ketothiolase deficiency (ACAT1); Biotinidase deficiency (BTD); Biotin-thiamine-responsive basal ganglia disease (SLC19A3); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine palmitoyltransferase II deficiency (CPT2); Cerebrotendinous xanthomatosis (CYP27A1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2); Congenital adrenal insufficiency, CYP11A1-related (CYP11A1); Congenital disorder of glycosylation, type Ia (PMM2); Congenital hydrocephalus 1 (CCDC88C); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Creatine transporter defect, SLC6A8-related, X-linked / Cerebral creatine deficiency syndrome (SLC6A8); Cystic fibrosis (CFTR); Dihydrolipoamide dehydrogenase deficiency (DLD); Donnai-Barrow syndrome (LRP2); Duchenne/Becker muscular dystrophy, X-linked (DMD); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Ellis-van Creveld syndrome (EVC2); ERCC2-related conditions (ERCC2); Fabry disease, X-linked (GLA); Factor IX deficiency / Hemophilia B (F9); Factory VIII deficiency / Hemophilia A (F8); Familial dysautonomia (ELP1); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Familial hyperinsulinism, ABCC8-related (ABCC8); Fanconi anemia, complementation group C (FANCC); Fragile X syndrome (FMR1); Fragile XE syndrome (AFF2); Fraser syndrome, type 3 (GRIP1); Friedreich ataxia (FXN); Fukuyama congenital muscular dystrophy (FKTN); Galactosemia (GALT); Gaucher disease (GBA); Glycogen storage disease, type Ia (G6PC1); Glycogen storage disease, type Ib / IIw (SLC37A4); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Homocystinuria, CBS-related (CBS); Hypophosphatasia (ALPL); Joubert syndrome 2 (TMEM216); Joubert syndrome 3 (AHI1); Joubert syndrome 9 (CC2D2A); Juvenile retinoschisis, X-linked (RS1); L1 syndrome (L1CAM); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP); Maple syrup urine disease, type 1B (BCKDHB); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria, MMUT-related (MMUT); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Myotonia congenita (CLCN1); Nemaline myopathy 2 (NEB); Niemann-Pick disease, types A/B (SMPD1); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Oculocutaneous albinism, type I (TYR); Oculocutaneous albinism, type II (OCA2); Ornithine transcarbamylase deficiency, X-linked (OTC); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); PLP1-related disorders (PLP1); POLG-related disorders (POLG); Pontocerebellar hypoplasia, type 6 (RARS2); Primary hyperoxaluria, type I (AGXT); Retinitis pigmentosa 3 (RPGR); Retinitis pigmentosa 59 (DHDDS); Schindler disease (NAGA); Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1); Skeletal dysplasia, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spinal muscular atrophy (SMN1); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Surfactant dysfunction, ABCA3-related (ABCA3); Tay-Sachs disease (HEXA); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Trimethylaminuria (FMO3); Tyrosinemia, type I (FAH); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1);Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Vitamin D-dependent rickets, type 1A (CYP27B1); Wilson disease (ATP7B); Xeroderma pigmentosum, group C (XPC); X-linked congenital adrenal hypoplasia (NR0B1); X-linked developmental disorders, ARX-related (ARX); X-linked Opitz G/BBB syndrome (MID1)1 - Guha S, Reddi HV, Aarabi M, et al. Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2024;26(7):101137. PMID 388143272 - American College of Medical Genetics (ACMG). Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetic Med. 2021;23(10):1793-1806. PMID 34285390 Categories: Price: $2524 |
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QHerit™ 179 Diseases, Male
*Build Your Own Panel Eligible [?]
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$2557 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. The female panel that corresponds to this male panel is QHerit™ 198 diseases, Female (Test Code 14230). Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss with a Quest Genetic Counselor.This test analyzes genetic variants associated with 179 conditions in alignment with the American of Medical Genetics and Genomics (ACMG) Tier 4 recommendations [1,2]; this panel does not include X-linked genes. Conditions included in this panel: 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS); Abetalipoproteinemia (MTTP); Achromatopsia, CNGB3-related (CNGB3); Adenosine deaminase deficiency (ADA); Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6); Aicardi-Goutieres syndrome 2 (RNASEH2B); Alpha-mannosidosis (MAN2B1); Alpha-thalassemia (HBA1/HBA2); Alport syndrome, COL4A3-related (COL4A3); Alport syndrome, COL4A4-related (COL4A4); Argininosuccinic aciduria (ASL); Arthrogryposis, mental retardation, and seizures (SLC35A3); Aspartylglycosaminuria (AGA); Ataxia-telangiectasia (ATM); Atransferrinemia (TF); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive congenital ichthyosis (TGM1); Autosomal recessive polycystic kidney disease (PKHD1); Autosomal recessive primary microcephaly 1 (MCPH1); Autosomal recessive spinocerebellar ataxia, type 10 (ANO10); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 10 (BBS10); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Beta-ketothiolase deficiency (ACAT1); Biotinidase deficiency (BTD); Biotin-thiamine-responsive basal ganglia disease (SLC19A3); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase II deficiency (CPT2); Cartilage-hair hypoplasia (RMRP); Cerebrotendinous xanthomatosis (CYP27A1); Citrullinemia, type I (ASS1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined pituitary hormone deficiency, type 2 (PROP1); Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2); Congenital adrenal insufficiency, CYP11A1-related (CYP11A1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of glycosylation, type Ia (PMM2); Congenital hydrocephalus 1 (CCDC88C); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Cystic fibrosis (CFTR); Cystinosis (CTNS); D-bifunctional protein deficiency (HSD17B4); Dihydrolipoamide dehydrogenase deficiency (DLD); Donnai-Barrow syndrome (LRP2); Dyskeratosis congenita, RTEL1-related (RTEL1); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Ellis-van Creveld syndrome (EVC2); ERCC2-related conditions (ERCC2); Factor XI deficiency / Hemophilia C (F11); Familial dysautonomia (ELP1); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial hyperinsulinism, KCNJ11-related (KCNJ11); Familial Mediterranean fever (MEFV); Fanconi anemia, complementation group A (FANCA); Fanconi anemia, complementation group C (FANCC); Fraser syndrome, type 3 (GRIP1); Friedreich ataxia (FXN); Fukuyama congenital muscular dystrophy (FKTN); Galactosemia (GALT); Gaucher disease (GBA); GLB1-related disorders (GLB1); Glutaric acidemia, type I (GCDH); Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC); Glycine encephalopathy, AMT-related (AMT); Glycogen storage disease, type Ia (G6PC1); Glycogen storage disease, type Ib / IIw (SLC37A4); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); GNE myopathy (GNE); GRACILE syndrome (BCS1L); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Holocarboxylase synthetase deficiency (HLCS); Homocystinuria, CBS-related (CBS); Hydrolethalus syndrome (HYLS1); Hypophosphatasia (ALPL); Infantile cerebral and cerebellar atrophy (MED17); Isovaleric acidemia (IVD); Joubert syndrome 2 (TMEM216); Joubert syndrome 3 (AHI1); Joubert syndrome 9 (CC2D2A); Junctional epidermolysis bullosa, LAMA3-related (LAMA3); Junctional epidermolysis bullosa, LAMB3-related (LAMB3); Junctional epidermolysis bullosa, LAMC2-related (LAMC2); Krabbe disease (GALC); LAMA2 muscular dystrophy (LAMA2); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Lethal congenital contracture syndrome 1 (GLE1); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP); Limb-girdle muscular dystrophy, type 3 (SGCA); Limb-girdle muscular dystrophy, type 4 (SGCB); Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA); Lysinuric protein intolerance (SLC7A7); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Maple syrup urine disease, type 2 (DBT);Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria, MMAA-related (MMAA); Methylmalonic aciduria, MMAB-related (MMAB); Methylmalonic aciduria, MMUT-related (MMUT); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU); Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT); Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS); Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB); Myotonia congenita (CLCN1); Nemaline myopathy 2 (NEB); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN6-related (CLN6); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, type C1 (NPC1); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1); Oculocutaneous albinism, type I (TYR); Oculocutaneous albinism, type II (OCA2); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); POLG-related disorders (POLG); Pontocerebellar hypoplasia, type 6 (RARS2); Primary hyperoxaluria, type I (AGXT); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Pyruvate carboxylase deficiency (PC); Retinitis pigmentosa 59 (DHDDS); Rhizomelic chondrodysplasia punctata, type 1 (PEX7); Sandhoff disease (HEXB); Schindler disease (NAGA); Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasia, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spastic ataxia, Charlevoix-Saguenay type (SACS); Spinal muscular atrophy (SMN1); Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Steroid-resistant nephrotic syndrome, type 2 (NPHS2); Surfactant dysfunction, ABCA3-related (ABCA3); Tay-Sachs disease (HEXA); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Trimethylaminuria (FMO3); Tyrosine hydroxylase deficiency (TH); Tyrosinemia, type I (FAH); Tyrosinemia, type II (TAT); Usher syndrome, type 1B (MYO7A); Usher syndrome, type 1C (USH1C); Usher syndrome, type 1D (CDH23); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Vitamin D-dependent rickets, type 1A (CYP27B1); Wilson disease (ATP7B); Xeroderma pigmentosum, group C (XPC); Zellweger spectrum disorders, PEX1-related (PEX1); Zellweger spectrum disorders, PEX2-related (PEX2); Zellweger spectrum disorders, PEX6-related (PEX6)1 - Guha S, Reddi HV, Aarabi M, et al. Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2024;26(7):101137. PMID 388143272 - American College of Medical Genetics (ACMG). Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetic Med. 2021;23(10):1793-1806. PMID 34285390 Categories: Price: $2557 |
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QHerit™ 198 Diseases, Female
*Build Your Own Panel Eligible [?]
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$2557 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified X-linked and autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. The male panel that corresponds to this female panel is QHerit™ 179 Diseases, Male (Test Code 14231). Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss with a Quest Genetic Counselor.This test analyzes genetic variants associated with 198 conditions in alignment with the American of Medical Genetics and Genomics (ACMG) Tier 4 recommendations [1,2]. Conditions included in this panel: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL); 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS); Abetalipoproteinemia (MTTP); Achromatopsia, CNGB3-related (CNGB3); Adenosine deaminase deficiency (ADA); Adrenoleukodystrophy, X-linked (ABCD1); Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6); Aicardi-Goutieres syndrome 2 (RNASEH2B); Alpha-mannosidosis (MAN2B1); Alpha-thalassemia (HBA1/HBA2); Alport syndrome, COL4A3-related (COL4A3); Alport syndrome, COL4A4-related (COL4A4); Alport syndrome, COL4A5-related, X-linked (COL4A5); Argininosuccinic aciduria (ASL); Arthrogryposis, mental retardation, and seizures (SLC35A3); Aspartylglycosaminuria (AGA); Ataxia-telangiectasia (ATM); Atransferrinemia (TF); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive congenital ichthyosis (TGM1); Autosomal recessive polycystic kidney disease (PKHD1); Autosomal recessive primary microcephaly 1 (MCPH1); Autosomal recessive spinocerebellar ataxia, type 10 (ANO10); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 10 (BBS10); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Beta-ketothiolase deficiency (ACAT1); Biotinidase deficiency (BTD); Biotin-thiamine-responsive basal ganglia disease (SLC19A3); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase II deficiency (CPT2); Cartilage-hair hypoplasia (RMRP); Cerebrotendinous xanthomatosis (CYP27A1); Citrullinemia, type I (ASS1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined pituitary hormone deficiency, type 2 (PROP1); Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2); Congenital adrenal insufficiency, CYP11A1-related (CYP11A1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of glycosylation, type Ia (PMM2); Congenital hydrocephalus 1 (CCDC88C); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Creatine transporter defect, SLC6A8-related, X-linked / Cerebral creatine deficiency syndrome (SLC6A8); Cystic fibrosis (CFTR); Cystinosis (CTNS); D-bifunctional protein deficiency (HSD17B4); Dihydrolipoamide dehydrogenase deficiency (DLD); Donnai-Barrow syndrome (LRP2); Duchenne/Becker muscular dystrophy, X-linked (DMD); Dyskeratosis congenita, RTEL1-related (RTEL1); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Ellis-van Creveld syndrome (EVC2); ERCC2-related conditions (ERCC2); Fabry disease, X-linked (GLA); Factor IX deficiency / Hemophilia B (F9); Factor XI deficiency / Hemophilia C (F11); Factory VIII deficiency / Hemophilia A (F8); Familial dysautonomia (ELP1); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial hyperinsulinism, KCNJ11-related (KCNJ11); Familial Mediterranean fever (MEFV); Fanconi anemia, complementation group A (FANCA); Fanconi anemia, complementation group C (FANCC); Fragile X syndrome (FMR1); Fragile XE syndrome (AFF2); Fraser syndrome, type 3 (GRIP1); Friedreich ataxia (FXN); Fukuyama congenital muscular dystrophy (FKTN); Galactosemia (GALT); Gaucher disease (GBA); GLB1-related disorders (GLB1); Glutaric acidemia, type I (GCDH); Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC); Glycine encephalopathy, AMT-related (AMT); Glycogen storage disease, type Ia (G6PC1); Glycogen storage disease, type Ib / IIw (SLC37A4); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); GNE myopathy (GNE); GRACILE syndrome (BCS1L); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Holocarboxylase synthetase deficiency (HLCS); Homocystinuria, CBS-related (CBS); Hydrolethalus syndrome (HYLS1); Hypophosphatasia (ALPL); Infantile cerebral and cerebellar atrophy (MED17); Isovaleric acidemia (IVD); Joubert syndrome 2 (TMEM216); Joubert syndrome 3 (AHI1); Joubert syndrome 9 (CC2D2A); Junctional epidermolysis bullosa, LAMA3-related (LAMA3); Junctional epidermolysis bullosa, LAMB3-related (LAMB3); Junctional epidermolysis bullosa, LAMC2-related (LAMC2); Juvenile retinoschisis, X-linked (RS1); Krabbe disease (GALC); L1 syndrome (L1CAM);LAMA2 muscular dystrophy (LAMA2); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Lethal congenital contracture syndrome 1 (GLE1); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP); Limb-girdle muscular dystrophy, type 3 (SGCA); Limb-girdle muscular dystrophy, type 4 (SGCB); Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA); Lysinuric protein intolerance (SLC7A7); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Maple syrup urine disease, type 2 (DBT); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Menkes disease (ATP7A); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria, MMAA-related (MMAA); Methylmalonic aciduria, MMAB-related (MMAB); Methylmalonic aciduria, MMUT-related (MMUT); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type II / Hunter syndrome (IDS); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU); Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT); Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS); Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB); Myotonia congenita (CLCN1); Nemaline myopathy 2 (NEB); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN6-related (CLN6); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, type C1 (NPC1); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1); Oculocutaneous albinism, type I (TYR); Oculocutaneous albinism, type II (OCA2); Ornithine transcarbamylase deficiency, X-linked (OTC); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); PLP1-related disorders (PLP1); POLG-related disorders (POLG); Pontocerebellar hypoplasia, type 6 (RARS2); Primary hyperoxaluria, type I (AGXT); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Pyruvate carboxylase deficiency (PC); Retinitis pigmentosa 3 (RPGR); Retinitis pigmentosa 59 (DHDDS); Rhizomelic chondrodysplasia punctata, type 1 (PEX7); Sandhoff disease (HEXB); Schindler disease (NAGA); Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasia, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spastic ataxia, Charlevoix-Saguenay type (SACS); Spinal muscular atrophy (SMN1); Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Steroid-resistant nephrotic syndrome, type 2 (NPHS2); Surfactant dysfunction, ABCA3-related (ABCA3); Tay-Sachs disease (HEXA); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Trimethylaminuria (FMO3); Tyrosine hydroxylase deficiency (TH); Tyrosinemia, type I (FAH); Tyrosinemia, type II (TAT); Usher syndrome, type 1B (MYO7A); Usher syndrome, type 1C (USH1C); Usher syndrome, type 1D (CDH23); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Vitamin D-dependent rickets, type 1A (CYP27B1); Wilson disease (ATP7B); Xeroderma pigmentosum, group C (XPC); X-linked congenital adrenal hypoplasia (NR0B1); X-linked developmental disorders, ARX-related (ARX); X-linked Opitz G/BBB syndrome (MID1); Zellweger spectrum disorders, PEX1-related (PEX1); Zellweger spectrum disorders, PEX2-related (PEX2); Zellweger spectrum disorders, PEX6-related (PEX6)1 - Guha S, Reddi HV, Aarabi M, et al. Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2024;26(7):101137. PMID 388143272 - American College of Medical Genetics (ACMG). Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetic Med. 2021;23(10):1793-1806. PMID 34285390 Categories: Price: $2557 |
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QHerit™ 26 Diseases, Male
*Build Your Own Panel Eligible [?]
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$2197 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. The female panel that corresponds to this male panel is QHerit™ 28 Diseases, Female (Test Code 18294). Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor.This test analyzes genetic variants associated with 26 conditions. Conditions included in this panel: Alpha-thalassemia (HBA1/HBA2), Autosomal recessive polycystic kidney disease (PKHD1), Beta hemoglobinopathies, including sickle cell disease (HBB), Bloom syndrome (BLM), Canavan disease (ASPA), Cystic fibrosis (CFTR), Dihydrolipoamide dehydrogenase deficiency (DLD), Familial dysautonomia (ELP1), Familial hyperinsulinism, ABCC8-related (ABCC8), Fanconi anemia, complementation group C (FANCA), Fukuyama congenital muscular dystrophy (FKTN), Galactosemia (GALT), Gaucher disease (GBA), Glycogen storage disease, type Ia (G6PC1), Joubert syndrome 2 (TMEM216), Maple syrup urine disease, type 1B (BCKDHB), Medium-chain acyl-CoA dehydrogenase deficiency (ACADM), Mucolipidosis IV (MCOLN1), Nemaline myopathy 2 (NEB), Niemann-Pick disease, types A/B (SMPD1), Phenylalanine hydroxylase deficiency (PAH), Smith-Lemli-Opitz syndrome (DHCR7), Spinal muscular atrophy (SMN1), Tay-Sachs disease (HEXA), Usher syndrome, type 1F (PCDH15), Usher syndrome, type 3A (CLRN1). Categories: Price: $2197 |
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QHerit™ 28 Diseases, Female
*Build Your Own Panel Eligible [?]
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$2197 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. The male panel that corresponds to this female panel is QHerit™ 26 Diseases, Male (Test Code 18293). Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor.This test analyzes genetic variants associated with 28 conditions. Conditions included in this panel: Alpha-thalassemia (HBA1/HBA2), Autosomal recessive polycystic kidney disease (PKHD1), Beta hemoglobinopathies, including sickle cell disease (HBB), Bloom syndrome (BLM), Canavan disease (ASPA), Cystic fibrosis (CFTR), Dihydrolipoamide dehydrogenase deficiency (DLD), Duchenne/Becker muscular dystrophy, X-linked (DMD), Familial dysautonomia (ELP1), Familial hyperinsulinism, ABCC8-related (ABCC8), Fanconi anemia, complementation group C (FANCA), Fragile X syndrome (FMR1), Fukuyama congenital muscular dystrophy (FKTN), Galactosemia (GALT), Gaucher disease (GBA), Glycogen storage disease, type Ia (G6PC1), Joubert syndrome 2 (TMEM216), Maple syrup urine disease, type 1B (BCKDHB), Medium-chain acyl-CoA dehydrogenase deficiency (ACADM), Mucolipidosis IV (MCOLN1), Nemaline myopathy 2 (NEB), Niemann-Pick disease, types A/B (SMPD1), Phenylalanine hydroxylase deficiency (PAH), Smith-Lemli- Opitz syndrome (DHCR7), Spinal muscular atrophy (SMN1), Tay-Sachs disease (HEXA), Usher syndrome, type 1F (PCDH15), Usher syndrome, type 3A (CLRN1). Categories: Price: $2197 |
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QHerit™ 381 Diseases, Male
*Build Your Own Panel Eligible [?]
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$2565 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified autosomal recessive disorders and allows carrier screening of individuals regardless of ancestry or geographic origin. The female panel that corresponds to this male panel is QHerit™ 421 Diseases, Female (Test Code 12593). Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making; this large panel may be particularly useful in the pre-conception or fertility setting. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor.This test analyzes genes associated with 381 conditions including the 150 conditions included in QHerit™ Extended carrier screen. Conditions included in this panel include: 17-beta-hydroxysteroid dehydrogenase deficiency, type III (HSD17B3) ; 3-beta-hydroxysteroid dehydrogenase deficiency, type II (HSD3B2) ; 3-hydroxy-3-methylglutaryl-coA lyase deficiency (HMGCL) ; 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH) ; 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1) ; 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2) ; 3-methylglutaconic aciduria, type III / Costeff syndrome (OPA3) ; 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS) ; Abetalipoproteinemia (MTTP) ; Achromatopsia, CNGB3-related (CNGB3) ; Acrodermatitis enteropathica (SLC39A4) ; Action myoclonus renal failure syndrome (SCARB2) ; Acute infantile liver failure (TRMU) ; Adenosine deaminase deficiency (ADA) ; Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6) ; Aicardi-Goutieres syndrome 2 (RNASEH2B) ; Aicardi-Goutieres syndrome 3 (RNASEH2C) ; Aicardi-Goutieres syndrome 4 (RNASEH2A) ; Aicardi-Goutieres syndrome 5 (SAMHD1) ; Alpha-1 antitrypsin deficiency (SERPINA1) ; Alpha-mannosidosis (MAN2B1) ; Alpha-thalassemia (HBA1/HBA2) ; Alport syndrome, COL4A3-related (COL4A3) ; Alport syndrome, COL4A4-related (COL4A4) ; Alstrom Syndrome (ALMS1) ; Amish infantile epilepsy syndrome (ST3GAL5) ; Argininemia (ARG1) ; Argininosuccinic aciduria (ASL) ; Aromatase deficiency (CYP19A1) ; Arthrogryposis, mental retardation, and seizures (SLC35A3) ; Asparagine synthetase deficiency (ASNS) ; Aspartylglycosaminuria (AGA) ; Ataxia with isolated vitamin E deficiency (TTPA) ; Ataxia-telangiectasia (ATM) ; Ataxia-telangiectasia-like disorder 1 (MRE11) ; Autoimmune polyglandular syndrome, type 1 (AIRE) ; Autosomal recessive congenital ichthyosis (TGM1) ; Autosomal recessive polycystic kidney disease (PKHD1) ; Bardet-Biedl syndrome 1 (BBS1) ; Bardet-Biedl syndrome 10 (BBS10) ; Bardet-Biedl syndrome 12 (BBS12) ; Bardet-Biedl syndrome 2 (BBS2) ; Bardet-Biedl syndrome 4 (BBS4) ; Bardet-Biedl syndrome 6 (MKKS) ; Bardet-Biedl syndrome 7 (BBS7) ; Bardet-Biedl syndrome 8 (TTC8) ; Bardet-Biedl syndrome 9 (BBS9) ; Bare lymphocyte syndrome, type II (CIITA) ; Bartter syndrome, type 4A (BSND) ; Bernard-Soulier syndrome, type A (GP1BA) ; Bernard-Soulier syndrome, type C (GP9) ; Beta hemoglobinopathies (HBB) ; Beta-ketothiolase deficiency (ACAT1) ; Beta-ureidopropionase deficiency (UPB1) ; Bilateral frontoparietal polymicrogyria (ADGRG1) ; Biotinidase deficiency (BTD) ; Bloom syndrome (BLM) ; Canavan disease (ASPA) ; Carbamoyl phosphate synthetase I deficiency (CPS1) ; Carnitine deficiency, systemic primary (SLC22A5) ; Carnitine palmitoyltransferase I deficiency (CPT1A) ; Carnitine palmitoyltransferase II deficiency (CPT2) ; Carnitine-acylcarnitine translocase deficiency (SLC25A20) ; Carpenter syndrome (RAB23) ; Cartilage-hair hypoplasia (RMRP) ; Cerebrooculofacioskeletal syndrome 1 / Cockayne syndrome, type B (ERCC6) ; Cerebrotendinous xanthomatosis (CYP27A1) ; Charcot-Marie-Tooth disease, type 1X (GJB1) ; Chediak-Higashi syndrome (LYST) ; Choreoacanthocytosis (VPS13A) ; Choroideremia, X-linked (CHM) ; Chronic granulomatous disease, X-linked (CYBB) ; Citrin deficiency / Citrullinemia, type II (SLC25A13) ; Citrullinemia, type I (ASS1) ; Cockayne syndrome, type A (ERCC8) ; Cohen syndrome (VPS13B) ; Combined malonic and methylmalonic aciduria (ACSF3) ; Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC) ; Combined methylmalonic aciduria and homocystinuria, cblD type / Cobalamin D deficiency (MMADHC) ; Combined oxidative phosphorylation deficiency 1 (GFM1) ; Combined oxidative phosphorylation deficiency 3 (TSFM) ; Combined oxidative phosphorylation deficiency 6 (AIFM1) ; Combined pituitary hormone deficiency, type 3 (LHX3) ; Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency (CYP11B1) ; Congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency (CYP17A1) ; Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2) ; Congenital amegakaryocytic thrombocytopenia (MPL) ; Congenital disorder of glycosylation, type Ia (PMM2) ; Congenital disorder of glycosylation, type Ib (MPI) ; Congenital disorder of glycosylation, type Ic (ALG6) ; Congenital ichthyosis, ABCA12-related (ABCA12) ; Congenital insensitivity to pain with anhidrosis (NTRK1) ; Congenital myasthenic syndrome, CHAT-related (CHAT) ; Congenital myasthenic syndrome, CHRNE-related (CHRNE) ; Congenital myasthenic syndrome, COLQ-related (COLQ) ; Congenital myasthenic syndrome, DOK7-related (DOK7) ; Congenital myasthenic syndrome, RAPSN-related (RAPSN) ; Congenital neutropenia, HAX1-related (HAX1) ; Corneal dystrophy and perceptive deafness syndrome (SLC4A11) ; Corticosterone methyloxidase deficiency (CYP11B2) ; CRB1-related retinal dystrophies (CRB1) ; Cystic fibrosis (CFTR) ; Cystinosis (CTNS) ; D-bifunctional protein deficiency (HSD17B4) ; Desbuquois dysplasia, type I (CANT1) ; Dihydrolipoamide dehydrogenase deficiency (DLD) ; Dihydropyrimidine dehydrogenase deficiency (DPYD) ; Dyskeratosis congenita, RTEL1-related (RTEL1) ; Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1) ; Ehlers-Danlos syndrome, dermatosparaxis type (ADAMTS2) ; Ellis-van Creveld syndrome (EVC) ; Emery-Dreifuss muscular dystrophy, X-linked (EMD) ; Enhanced S-cone syndrome (NR2E3) ; ERCC2-related conditions (ERCC2) ; Ethylmalonic encephalopathy (ETHE1) ; Factor XI deficiency / Hemophilia C (F11) ; Familial dysautonomia (ELP1) ; Familial hemophagocytic lymphohistiocytosis 2 (PRF1) ; Familial hemophagocytic lymphohistiocytosis 4 (STX11) ; Familial hemophagocytic lymphohistiocytosis 5 (STXBP2) ; Familial hypercholesterolemia, LDLRAP1-related (LDLRAP1) ; Familial hypercholesterolemia, LDLR-related (LDLR) ; Familial hyperinsulinism, ABCC8-related (ABCC8) ; Familial hyperinsulinism, KCNJ11-related (KCNJ11) ; Familial Mediterranean fever (MEFV) ; Fanconi anemia, complementation group A (FANCA) ; Fanconi anemia, complementation group C (FANCC) ; Fanconi anemia, complementation group D2 (FANCD2) ; Fanconi anemia, complementation group E (FANCE) ; Fanconi anemia, complementation group F (FANCF) ; Fanconi anemia, complementation group G (FANCG) ; Fanconi anemia, complementation group I (FANCI) ; Fanconi anemia, complementation group L (FANCL) ; Farber lipogranulomatosis (ASAH1) ; Free sialic acid storage disorders (SLC17A5) ; Fukuyama congenital muscular dystrophy (FKTN) ; Fumarase deficiency (FH) ; GABA-transaminase deficiency (ABAT) ; Galactosemia (GALT) ; Galactosemia, type II / Galactokinase deficiency (GALK1) ; Galactosialidosis (CTSA) ; Gaucher disease (GBA) ; Gitelman syndrome (SLC12A3) ; GLB1-related disorders (GLB1) ; Glutaric acidemia, type I (GCDH) ; Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC) ; Glycine encephalopathy, AMT-related (AMT) ; Glycogen storage disease, type Ia (G6PC1) ; Glycogen storage disease, type Ib / IIw (SLC37A4) ; Glycogen storage disease, type II / Pompe disease (GAA) ; Glycogen storage disease, type III (AGL) ; Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1) ; Glycogen storage disease, type V (PYGM) ; Glycogen storage disease, type VII (PFKM) ; GNE myopathy (GNE) ; GRACILE syndrome (BCS1L) ; Guanidinoacetate methyltransferase deficiency (GAMT) ; Hereditary fructose intolerance (ALDOB) ; Hereditary hemochromatosis, type 2 (HJV) ; Hereditary hemochromatosis, type 3 (TFR2) ; Hermansky-Pudlak syndrome, type 1 (HPS1) ; Hermansky-Pudlak syndrome, type 2 (AP3B1) ; Hermansky-Pudlak syndrome, type 3 (HPS3) ; Hermansky-Pudlak syndrome, type 4 (HPS4) ; Holocarboxylase synthetase deficiency (HLCS) ; Homocystinuria caused by methylenetetrahydrofolate reductase (MTHFR) deficiency (MTHFR) ; Homocystinuria, CBS-related (CBS) ; Homocystinuria, type cblE (MTRR) ; Hydrolethalus syndrome (HYLS1) ; Hyperphosphatemic familial tumoral calcinosis (GALNT3) ; Hypophosphatasia (ALPL) ; Infantile cerebral and cerebellar atrophy (MED17) ; Isovaleric acidemia (IVD) ; Johanson-Blizzard syndrome (UBR1) ; Joubert syndrome 1 (INPP5E) ; Joubert syndrome 15 (CEP41) ; Joubert syndrome 17 (CPLANE1) ; Joubert syndrome 2 (TMEM216) ; Joubert syndrome 21 (CSPP1) ; Joubert syndrome 25 (CEP104) ; Joubert syndrome 27 (B9D1) ; Joubert syndrome 3 (AHI1) ; Joubert syndrome 31 (CEP120) ; Joubert syndrome 34 (B9D2) ; Joubert syndrome 8 (ARL13B) ; Joubert syndrome 9 (CC2D2A) ; Junctional epidermolysis bullosa, LAMA3-related (LAMA3) ; Junctional epidermolysis bullosa, LAMB3-related (LAMB3) ; Junctional epidermolysis bullosa, LAMC2-related (LAMC2) ; Krabbe disease (GALC) ; LAMA2 muscular dystrophy (LAMA2) ; Leber congenital amaurosis 13 (RDH12) ; Leber congenital amaurosis 2 (RPE65) ; Leber congenital amaurosis 5 (LCA5) ; Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290) ; Lethal congenital contracture syndrome 1 (GLE1) ; Leukoencephalopathy with vanishing white matter (EIF2B5) ; Limb-girdle muscular dystrophy, type 2A (CAPN3) ; Limb-girdle muscular dystrophy, type 2B (DYSF) ; Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP) ; Limb-girdle muscular dystrophy, type 3 (SGCA) ; Limb-girdle muscular dystrophy, type 4 (SGCB) ; Limb-girdle muscular dystrophy, type 5 (SGCG) ; Limb-girdle muscular dystrophy, type 6 (SGCD) ; Lipoid congenital adrenal hyperplasia (STAR) ; Lipoprotein lipase deficiency (LPL) ; Lowe syndrome, X-linked (OCRL) ; Lysinuric protein intolerance (SLC7A7) ; Lysosomal acid lipase deficiency (LIPA) ; Malonyl-CoA decarboxylase deficiency (MLYCD) ; Maple syrup urine disease, type 1A (BCKDHA) ; Maple syrup urine disease, type 1B (BCKDHB) ; Maple syrup urine disease, type 2 (DBT) ; Medium chain acyl-CoA dehydrogenase deficiency (ACADM) ; MEDNIK syndrome (AP1S1) ; Menkes disease (ATP7A) ; Metachromatic leukodystrophy due to saposin B deficiency (PSAP) ; Metachromatic leukodystrophy, ARSA-related (ARSA) ; Methylmalonic aciduria, MMAA-related (MMAA) ; Methylmalonic aciduria, MMAB-related (MMAB) ; Methylmalonic aciduria, MMUT-related (MMUT) ; Micropthalmia / Anopthalmia (VSX2) ; Mitochondrial complex I deficiency, ACAD9-related (ACAD9) ; Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4) ; Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5) ; Mitochondrial complex I deficiency, nuclear type 17 (NDUFAF6) ; Mitochondrial complex I deficiency, nuclear type 9 (NDUFS6) ; Mitochondrial complex IV deficiency, nuclear type 12 (PET100) ; Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC) ; Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP) ; Mitochondrial trifunctional protein deficiency, HADHB-related (HADHB) ; MKS1-related disorders (MKS1) ; Molybdenum cofactor deficiency of complementation group A (MOCS1) ; MPV17-related mitochondrial DNA (mtDNA) maintenance defect (MPV17) ; Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB) ; Mucolipidosis III gamma (GNPTG) ; Mucolipidosis, type IV (MCOLN1) ; Mucopolysaccharidosis, type I / Hurler syndrome (IDUA) ; Mucopolysaccharidosis, type II / Hunter syndrome (IDS) ; Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU) ; Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT) ; Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS) ; Mucopolysaccharidosis, type IVA / Morquio syndrome (GALNS) ; Mucopolysaccharidosis, type IX / Hyaluronidase deficiency (HYAL1) ; Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB) ; Mucopolysaccharidosis, type VII / Sly syndrome (GUSB) ; Mulibrey nanism (TRIM37) ; Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIA (ETFA) ; Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIB (ETFB ; Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIC (ETFDH) ; Multiple pterygium syndrome, lethal type (CHRNG) ; Multiple sulfatase deficiency (SUMF1) ; Muscular dystrophy-dystroglycanopathy, type A, 1 (POMT1) ; Muscular dystrophy-dystroglycanopathy, type A, 2 (POMT2) ; Muscular dystrophy-dystroglycanopathy, type A, 3 (POMGNT1) ; Muscular dystrophy-dystroglycanopathy, type A, 6 (LARGE1) ; Muscular dystrophy-dystroglycanopathy, type A, 7 (CRPPA) ; Myopathy, lactic acidosis, and sideroblastic anemia (PUS1) ; N-acetylglutamate synthase deficiency (NAGS) ; Nemaline myopathy 2 (NEB) ; Nephrogenic diabetes insipidus (AQP2) ; Nephronophthisis 2 (INVS) ; Neuronal ceroid lipofuscinosis, CLN3-related (CLN3) ; Neuronal ceroid lipofuscinosis, CLN5-related (CLN5) ; Neuronal ceroid lipofuscinosis, CLN6-related (CLN6) ; Neuronal ceroid lipofuscinosis, CLN8-related (CLN8) ; Neuronal ceroid lipofuscinosis, CTSD-related (CTSD) ; Neuronal ceroid lipofuscinosis, MFSD8-related (MFSD8) ; Neuronal ceroid lipofuscinosis, PPT1-related (PPT1) ; Neuronal ceroid lipofuscinosis, TPP1-related (TPP1) ; Niemann-Pick disease, type C1 (NPC1) ; Niemann-Pick disease, type C2 (NPC2) ; Niemann-Pick disease, types A/B (SMPD1) ; Nijmegen breakage syndrome (NBN) ; Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2) ; Nonsyndromic hearing loss and deafness (DFNB) 3 (MYO15A) ; Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1) ; NPHP1 nephronophthisis-related ciliopathies (NPHP1) ; NPHP3 nephronophthisis-related ciliopathies (NPHP3) ; NPHP4 nephronophthisis-related ciliopathies (NPHP4) ; Odonto-onycho-dermal dysplasia / Schopf-Schulz-Passarge syndrome (WNT10A) ; Omenn syndrome (DCLRE1C) ; Ornithine aminotransferase deficiency (OAT) ; Ornithine translocase deficiency (SLC25A15) ; Orofaciodigital syndrome, type XIV (C2CD3) ; Osteopetrosis, infantile malignant, TCIRG1-related (TCIRG1) ; Pendred syndrome (SLC26A4) ; Perlman syndrome (DIS3L2) ; Peroxisomal acyl-CoA oxidase deficiency (ACOX1) ; Phenylalanine hydroxylase deficiency (PAH) ; Phosphoglycerate dehydrogenase deficiency (PHGDH) ; PLA2G6-associated neurodegeneration (PLA2G6) ; POLG-related disorders (POLG) ; Pontocerebellar hypoplasia, type 1A (VRK1) ; Pontocerebellar hypoplasia, type 1B (EXOSC3) ; Pontocerebellar hypoplasia, type 2B (TSEN2) ; Pontocerebellar hypoplasia, type 2E (VPS53) ; Pontocerebellar hypoplasia, type 6 (RARS2) ; Pontocerebellar hypoplasia, types 4 and 2A (TSEN54) ; Primary ciliary dyskinesia, DNAH5-related (DNAH5) ; Primary ciliary dyskinesia, DNAI1-related (DNAI1) ; Primary ciliary dyskinesia, DNAI2-related (DNAI2) ; Primary congenital glaucoma (CYP1B1) ; Primary hyperoxaluria, type I (AGXT) ; Primary hyperoxaluria, type II (GRHPR) ; Primary hyperoxaluria, type III (HOGA1) ; Progressive cerebello-cerebral atrophy (SEPSECS) ; Progressive familial intrahepatic cholestasis 1 and benign familial intrahepatic cholestasis 1 (ATP8B1) ; Progressive familial intrahepatic cholestasis 4 (TJP2) ; Progressive familial intrahepatic cholestastasis, type 2 (ABCB11) ; Prolidase deficiency (PEPD) ; Propionic acidemia, PCCA-related (PCCA) ; Propionic acidemia, PCCB-related (PCCB) ; Pseudocholinesterase deficiency (BCHE) ; Pseudoxanthoma elasticum (ABCC6) ; Pycnodysostosis (CTSK) ; Pyridoxine-dependent epilepsy (ALDH7A1) ; Pyruvate carboxylase deficiency (PC) ; Pyruvate dehydrogenase E1-beta deficiency (PDHB) ; Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (TANGO2) ; Refsum disease (PHYH) ; Renal tubular acidosis (SLC4A4) ; Renal tubular acidosis and deafness, ATP6V1B1-related (ATP6V1B1) ; Retinitis pigmentosa 25 (EYS) ; Retinitis pigmentosa 26 (CERKL) ; Retinitis pigmentosa 28 (FAM161A) ; Retinitis pigmentosa 59 (DHDDS) ; Rhizomelic chondrodysplasia punctata, type 1 (PEX7) ; Rhizomelic chondrodysplasia punctata, type 2 (GNPAT) ; Rhizomelic chondrodysplasia punctata, type 3 (AGPS) ; Roberts-SC phocomelia syndrome (ESCO2) ; Sandhoff disease (HEXB) ; Schimke immunoosseous dysplasia (SMARCAL1) ; Senior-Loken syndrome 5 (IQCB1) ; Severe combined immunodeficiency, RAG1-related (RAG1) ; Severe combined immunodeficiency, RAG2-related (RAG2) ; Severe congenital neutropenia 5 (VPS45) ; Shwachman-Diamond syndrome (SBDS) ; Sialidosis (NEU1) ; Sjogren-Larsson syndrome (ALDH3A2) ; Skeletal dysplasias, SLC26A2-related (SLC26A2) ; Smith-Lemli-Opitz syndrome (DHCR7) ; Spastic ataxia, Charlevoix-Saguenay type (SACS) ; Spastic paraplegia, type 15 (ZFYVE26) ; Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SLC1A4) ; Spinal muscular atrophy (SMN1) ; Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2) ; Steel syndrome (COL27A1) ; Steroid resistant nephrotic syndrome, type 1 (NPHS1) ; Steroid-resistant nephrotic syndrome, type 2 (NPHS2) ; Steroid-resistant nephrotic syndrome, type 3 (PLCE1) ; Stuve-Wiedemann syndrome (LIFR) ; Tay-Sachs disease (HEXA) ; TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2) ; Trichohepatoenteric syndrome 1 (TTC37) ; Triple A syndrome (AAAS) ; Tyrosine hydroxylase deficiency (TH) ; Tyrosinemia, type I (FAH) ; Tyrosinemia, type II (TAT) ; Usher syndrome, type 1B (MYO7A) ; Usher syndrome, type 1C (USH1C) ; Usher syndrome, type 1D (CDH23) ; Usher syndrome, type 1F (PCDH15) ; Usher syndrome, type 1J (CIB2) ; Usher syndrome, type 2A (USH2A) ; Usher syndrome, type 2C (ADGRV1) ; Usher syndrome, type 3A (CLRN1) ; Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL) ; Vitamin D-dependent rickets, type 1A (CYP27B1) ; Werner syndrome (WRN) ; Wilson disease (ATP7B) ; Wolcott-Rallison syndrome (EIF2AK3) ; WWOX deficiency (WWOX) ; Xeroderma pigmentosum, group A (XPA) ; Xeroderma pigmentosum, group C (XPC) ; Zellweger spectrum disorders, PEX10-related (PEX10) ; Zellweger spectrum disorders, PEX12-related (PEX12) ; Zellweger spectrum disorders, PEX1-related (PEX1) ; Zellweger spectrum disorders, PEX26-related (PEX26) ; Zellweger spectrum disorders, PEX2-related (PEX2) ; Zellweger spectrum disorders, PEX6-related (PEX6) Categories: Price: $2565 |
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QHerit™ 400 Diseases, Male
*Build Your Own Panel Eligible [?]
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$2726 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified autosomal recessive disorders and allows carrier screening of individuals regardless of ancestry or geographic origin. This female panel corresponds to this male panel is QHerit™ 445 Diseases, Female (Test Code 13832). Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making; this large panel may be particularly useful in the pre-conception or fertility setting. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor.This test analyzes genes associated with 381 conditions including the 381 conditions included in QHerit™ 381 Diseases, male carrier screen. Conditions included in this panel include: 17-beta-hydroxysteroid dehydrogenase deficiency, type III (HSD17B3) ; 3-beta-hydroxysteroid dehydrogenase deficiency, type II (HSD3B2) ; 3-hydroxy-3-methylglutaryl-coA lyase deficiency (HMGCL) ; 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH) ; 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1) ; 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2) ; 3-methylglutaconic aciduria, type III / Costeff syndrome (OPA3) ; 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS) ; Abetalipoproteinemia (MTTP) ; Achromatopsia, CNGB3-related (CNGB3) ; Acrodermatitis enteropathica (SLC39A4) ; Action myoclonus renal failure syndrome (SCARB2) ; Acute infantile liver failure (TRMU) ; Adenosine deaminase deficiency (ADA) ; Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6) ; Aicardi-Goutieres syndrome 2 (RNASEH2B) ; Aicardi-Goutieres syndrome 3 (RNASEH2C) ; Aicardi-Goutieres syndrome 4 (RNASEH2A) ; Aicardi-Goutieres syndrome 5 (SAMHD1) ; Alpha-1 antitrypsin deficiency (SERPINA1) ; Alpha-mannosidosis (MAN2B1) ; Alpha-thalassemia (HBA1/HBA2) ; Alport syndrome, COL4A3-related (COL4A3) ; Alport syndrome, COL4A4-related (COL4A4) ; Alstrom Syndrome (ALMS1) ; Amish infantile epilepsy syndrome (ST3GAL5) ; Argininemia (ARG1) ; Argininosuccinic aciduria (ASL) ; Aromatase deficiency (CYP19A1) ; Arthrogryposis, mental retardation, and seizures (SLC35A3) ; Asparagine synthetase deficiency (ASNS) ; Aspartylglycosaminuria (AGA) ; Ataxia with isolated vitamin E deficiency (TTPA) ; Ataxia-telangiectasia (ATM) ; Ataxia-telangiectasia-like disorder 1 (MRE11) ; Atransferrinemia (TF) ; Autoimmune polyglandular syndrome, type 1 (AIRE) ; Autosomal recessive congenital ichthyosis (TGM1) ; Autosomal recessive polycystic kidney disease (PKHD1) ; Autosomal recessive primary microcephaly 1 (MCPH1) ; Autosomal recessive spinocerebellar ataxia, type 10 (ANO10) ; Bardet-Biedl syndrome 1 (BBS1) ; Bardet-Biedl syndrome 10 (BBS10) ; Bardet-Biedl syndrome 12 (BBS12) ; Bardet-Biedl syndrome 2 (BBS2) ; Bardet-Biedl syndrome 4 (BBS4) ; Bardet-Biedl syndrome 6 (MKKS) ; Bardet-Biedl syndrome 7 (BBS7) ; Bardet-Biedl syndrome 8 (TTC8) ; Bardet-Biedl syndrome 9 (BBS9) ; Bare lymphocyte syndrome, type II (CIITA) ; Bartter syndrome, type 4A (BSND) ; Bernard-Soulier syndrome, type A (GP1BA) ; Bernard-Soulier syndrome, type C (GP9) ; Beta hemoglobinopathies (HBB) ; Beta-ketothiolase deficiency (ACAT1) ; Beta-ureidopropionase deficiency (UPB1) ; Bilateral frontoparietal polymicrogyria (ADGRG1) ; Biotinidase deficiency (BTD) ; Biotin-thiamine-responsive basal ganglia disease (SLC19A3) ; Bloom syndrome (BLM) ; Canavan disease (ASPA) ; Carbamoyl phosphate synthetase I deficiency (CPS1) ; Carnitine deficiency, systemic primary (SLC22A5) ; Carnitine palmitoyltransferase I deficiency (CPT1A) ; Carnitine palmitoyltransferase II deficiency (CPT2) ; Carnitine-acylcarnitine translocase deficiency (SLC25A20) ; Carpenter syndrome (RAB23) ; Cartilage-hair hypoplasia (RMRP) ; Cerebrooculofacioskeletal syndrome 1 / Cockayne syndrome, type B (ERCC6) ; Cerebrotendinous xanthomatosis (CYP27A1) ; Charcot-Marie-Tooth disease, type 4D (NDRG1) ; Chediak-Higashi syndrome (LYST) ; Choreoacanthocytosis (VPS13A) ; Chronic granulomatous disease 4 (CYBA) ; Ciliopathies, RPGRIP1L-related (RPGRIP1L) ; Citrin deficiency / Citrullinemia, type II (SLC25A13) ; Citrullinemia, type I (ASS1) ; Cockayne syndrome, type A (ERCC8) ; Cohen syndrome (VPS13B) ; Combined malonic and methylmalonic aciduria (ACSF3) ; Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC) ; Combined methylmalonic aciduria and homocystinuria, cblD type / Cobalamin D deficiency (MMADHC) ; Combined oxidative phosphorylation deficiency 1 (GFM1) ; Combined oxidative phosphorylation deficiency 3 (TSFM) ; Combined pituitary hormone deficiency, type 2 (PROP1) ; Combined pituitary hormone deficiency, type 3 (LHX3) ; Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency (CYP11B1) ; Congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency (CYP17A1) ; Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2) ; Congenital adrenal insufficiency, CYP11A1-related (CYP11A1) ; Congenital amegakaryocytic thrombocytopenia (MPL) ; Congenital disorder of glycosylation, type Ia (PMM2) ; Congenital disorder of glycosylation, type Ib (MPI) ; Congenital disorder of glycosylation, type Ic (ALG6) ; Congenital hydrocephalus 1 (CCDC88C) ; Congenital ichthyosis, ABCA12-related (ABCA12) ; Congenital insensitivity to pain with anhidrosis (NTRK1) ; Congenital myasthenic syndrome, CHAT-related (CHAT) ; Congenital myasthenic syndrome, CHRNE-related (CHRNE) ; Congenital myasthenic syndrome, COLQ-related (COLQ) ; Congenital myasthenic syndrome, DOK7-related (DOK7) ; Congenital myasthenic syndrome, RAPSN-related (RAPSN) ; Congenital neutropenia, HAX1-related (HAX1) ; Corneal dystrophy and perceptive deafness syndrome (SLC4A11) ; Corticosterone methyloxidase deficiency (CYP11B2) ; CRB1-related retinal dystrophies (CRB1) ; Cystic fibrosis (CFTR) ; Cystinosis (CTNS) ; D-bifunctional protein deficiency (HSD17B4) ; Desbuquois dysplasia, type I (CANT1) ; Dihydrolipoamide dehydrogenase deficiency (DLD) ; Dihydropyrimidine dehydrogenase deficiency (DPYD) ; Donnai-Barrow syndrome (LRP2) ; Dyskeratosis congenita, RTEL1-related (RTEL1) ; Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1) ; Ehlers-Danlos syndrome, dermatosparaxis type (ADAMTS2) ; Ellis-van Creveld syndrome (EVC2) ; Ellis-van Creveld syndrome (EVC) ; Enhanced S-cone syndrome (NR2E3) ; ERCC2-related conditions (ERCC2) ; Ethylmalonic encephalopathy (ETHE1) ; Factor XI deficiency / Hemophilia C (F11) ; Familial dysautonomia (ELP1) ; Familial hemophagocytic lymphohistiocytosis 2 (PRF1) ; Familial hemophagocytic lymphohistiocytosis 4 (STX11) ; Familial hemophagocytic lymphohistiocytosis 5 (STXBP2) ; Familial hypercholesterolemia, LDLRAP1-related (LDLRAP1) ; Familial hypercholesterolemia, LDLR-related (LDLR) ; Familial hyperinsulinism, ABCC8-related (ABCC8) ; Familial hyperinsulinism, KCNJ11-related (KCNJ11) ; Familial Mediterranean fever (MEFV) ; Fanconi anemia, complementation group A (FANCA) ; Fanconi anemia, complementation group C (FANCC) ; Fanconi anemia, complementation group D2 (FANCD2) ; Fanconi anemia, complementation group E (FANCE) ; Fanconi anemia, complementation group F (FANCF) ; Fanconi anemia, complementation group G (FANCG) ; Fanconi anemia, complementation group I (FANCI) ; Fanconi anemia, complementation group L (FANCL) ; Farber lipogranulomatosis (ASAH1) ; Fraser syndrome, type 3 (GRIP1) ; Free sialic acid storage disorders (SLC17A5) ; Friedreich ataxia (FXN) ; Fukuyama congenital muscular dystrophy (FKTN) ; Fumarase deficiency (FH) ; GABA-transaminase deficiency (ABAT) ; Galactosemia (GALT) ; Galactosemia, type II / Galactokinase deficiency (GALK1) ; Galactosialidosis (CTSA) ; Gaucher disease (GBA) ; Gitelman syndrome (SLC12A3) ; GLB1-related disorders (GLB1) ; Glutaric acidemia, type I (GCDH) ; Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC) ; Glycine encephalopathy, AMT-related (AMT) ; Glycogen storage disease, type Ia (G6PC1) ; Glycogen storage disease, type Ib / IIw (SLC37A4) ; Glycogen storage disease, type II / Pompe disease (GAA) ; Glycogen storage disease, type III (AGL) ; Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1) ; Glycogen storage disease, type V (PYGM) ; Glycogen storage disease, type VII (PFKM) ; GNE myopathy (GNE) ; GRACILE syndrome (BCS1L) ; Guanidinoacetate methyltransferase deficiency (GAMT) ; Hereditary fructose intolerance (ALDOB) ; Hereditary hemochromatosis, type 2 (HJV) ; Hereditary hemochromatosis, type 3 (TFR2) ; Hermansky-Pudlak syndrome, type 1 (HPS1) ; Hermansky-Pudlak syndrome, type 2 (AP3B1) ; Hermansky-Pudlak syndrome, type 3 (HPS3) ; Hermansky-Pudlak syndrome, type 4 (HPS4) ; Holocarboxylase synthetase deficiency (HLCS) ; Homocystinuria caused by methylenetetrahydrofolate reductase (MTHFR) deficiency (MTHFR) ; Homocystinuria, CBS-related (CBS) ; Homocystinuria, type cblE (MTRR) ; Hydrolethalus syndrome (HYLS1) ; Hyperphosphatemic familial tumoral calcinosis (GALNT3) ; Hypophosphatasia (ALPL) ; Infantile cerebral and cerebellar atrophy (MED17) ; Isovaleric acidemia (IVD) ; Johanson-Blizzard syndrome (UBR1) ; Joubert syndrome 1 (INPP5E) ; Joubert syndrome 15 (CEP41) ; Joubert syndrome 17 (CPLANE1) ; Joubert syndrome 2 (TMEM216) ; Joubert syndrome 21 (CSPP1) ; Joubert syndrome 25 (CEP104) ; Joubert syndrome 27 (B9D1) ; Joubert syndrome 3 (AHI1) ; Joubert syndrome 31 (CEP120) ; Joubert syndrome 34 (B9D2) ; Joubert syndrome 8 (ARL13B) ; Joubert syndrome 9 (CC2D2A) ; Junctional epidermolysis bullosa, LAMA3-related (LAMA3) ; Junctional epidermolysis bullosa, LAMB3-related (LAMB3) ; Junctional epidermolysis bullosa, LAMC2-related (LAMC2) ; Krabbe disease (GALC) ; LAMA2 muscular dystrophy (LAMA2) ; Leber congenital amaurosis 13 (RDH12) ; Leber congenital amaurosis 2 (RPE65) ; Leber congenital amaurosis 5 (LCA5) ; Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290) ; Lethal congenital contracture syndrome 1 (GLE1) ; Leukoencephalopathy with vanishing white matter (EIF2B5) ; Limb-girdle muscular dystrophy, type 2A (CAPN3) ; Limb-girdle muscular dystrophy, type 2B (DYSF) ; Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP) ; Limb-girdle muscular dystrophy, type 3 (SGCA) ; Limb-girdle muscular dystrophy, type 4 (SGCB) ; Limb-girdle muscular dystrophy, type 5 (SGCG) ; Limb-girdle muscular dystrophy, type 6 (SGCD) ; Lipoid congenital adrenal hyperplasia (STAR) ; Lipoprotein lipase deficiency (LPL) ; Long chain 3-hydroxyacyl-coa dehydrogenase deficiency (HADHA) ; Lysinuric protein intolerance (SLC7A7) ; Lysosomal acid lipase deficiency (LIPA) ; Malonyl-CoA decarboxylase deficiency (MLYCD) ; Maple syrup urine disease, type 1A (BCKDHA) ; Maple syrup urine disease, type 1B (BCKDHB) ; Maple syrup urine disease, type 2 (DBT) ; Medium chain acyl-CoA dehydrogenase deficiency (ACADM) ; MEDNIK syndrome (AP1S1) ; Megalencephalic leukoencephalopathy with subcortical cysts (MLC1) ; Metachromatic leukodystrophy due to saposin B deficiency (PSAP) ; Metachromatic leukodystrophy, ARSA-related (ARSA) ; Methylmalonic aciduria, MMAA-related (MMAA) ; Methylmalonic aciduria, MMAB-related (MMAB) ; Methylmalonic aciduria, MMUT-related (MMUT) ; Mevalonic aciduria / Hyper-IgD syndrome (MVK) ; Micropthalmia / Anopthalmia (VSX2) ; Mitochondrial complex I deficiency, ACAD9-related (ACAD9) ; Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4) ; Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5) ; Mitochondrial complex I deficiency, nuclear type 17 (NDUFAF6) ; Mitochondrial complex I deficiency, nuclear type 9 (NDUFS6) ; Mitochondrial complex IV deficiency, nuclear type 12 (PET100) ; Mitochondrial complex IV deficiency, nuclear type 2 (SCO2) ; Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC) ; Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP) ; Mitochondrial trifunctional protein deficiency, HADHB-related (HADHB) ; MKS1-related disorders (MKS1) ; Molybdenum cofactor deficiency of complementation group A (MOCS1) ; MPV17-related mitochondrial DNA (mtDNA) maintenance defect (MPV17) ; Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB) ; Mucolipidosis III gamma (GNPTG) ; Mucolipidosis, type IV (MCOLN1) ; Mucopolysaccharidosis, type I / Hurler syndrome (IDUA) ; Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH) ; Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU) ; Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT) ; Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS) ; Mucopolysaccharidosis, type IVA / Morquio syndrome (GALNS) ; Mucopolysaccharidosis, type IX / Hyaluronidase deficiency (HYAL1) ; Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB) ; Mucopolysaccharidosis, type VII / Sly syndrome (GUSB) ; Mulibrey nanism (TRIM37) ; Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIA (ETFA) ; Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIB (ETFB) ; Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIC (ETFDH) ; Multiple pterygium syndrome, lethal type (CHRNG) ; Multiple sulfatase deficiency (SUMF1) ; Muscular dystrophy-dystroglycanopathy, type A, 1 (POMT1) ; Muscular dystrophy-dystroglycanopathy, type A, 2 (POMT2) ; Muscular dystrophy-dystroglycanopathy, type A, 3 (POMGNT1) ; Muscular dystrophy-dystroglycanopathy, type A, 6 (LARGE1) ; Muscular dystrophy-dystroglycanopathy, type A, 7 (CRPPA) ; Myopathy, lactic acidosis, and sideroblastic anemia (PUS1) ; Myotonia congenita (CLCN1) ; N-acetylglutamate synthase deficiency (NAGS) ; Nemaline myopathy 2 (NEB) ; Nephrogenic diabetes insipidus (AQP2) ; Nephronophthisis 2 (INVS) ; Neuronal ceroid lipofuscinosis, CLN3-related (CLN3) ; Neuronal ceroid lipofuscinosis, CLN5-related (CLN5) ; Neuronal ceroid lipofuscinosis, CLN6-related (CLN6) ; Neuronal ceroid lipofuscinosis, CLN8-related (CLN8) ; Neuronal ceroid lipofuscinosis, CTSD-related (CTSD) ; Neuronal ceroid lipofuscinosis, MFSD8-related (MFSD8) ; Neuronal ceroid lipofuscinosis, PPT1-related (PPT1) ; Neuronal ceroid lipofuscinosis, TPP1-related (TPP1) ; Niemann-Pick disease, type C1 (NPC1) ; Niemann-Pick disease, type C2 (NPC2) ; Niemann-Pick disease, types A/B (SMPD1) ; Nijmegen breakage syndrome (NBN) ; Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2) ; Nonsyndromic hearing loss and deafness (DFNB) 3 (MYO15A) ; Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1) ; NPHP1 nephronophthisis-related ciliopathies (NPHP1) ; NPHP3 nephronophthisis-related ciliopathies (NPHP3) ; NPHP4 nephronophthisis-related ciliopathies (NPHP4) ; Oculocutaneous albinism, type I (TYR) ; Oculocutaneous albinism, type II (OCA2) ; Odonto-onycho-dermal dysplasia / Schopf-Schulz-Passarge syndrome (WNT10A) ; Omenn syndrome (DCLRE1C) ; Ornithine aminotransferase deficiency (OAT) ; Ornithine translocase deficiency (SLC25A15) ; Orofaciodigital syndrome, type XIV (C2CD3) ; Osteopetrosis, infantile malignant, TCIRG1-related (TCIRG1) ; Pendred syndrome (SLC26A4) ; Perlman syndrome (DIS3L2) ; Peroxisomal acyl-CoA oxidase deficiency (ACOX1) ; Phenylalanine hydroxylase deficiency (PAH) ; Phosphoglycerate dehydrogenase deficiency (PHGDH) ; PLA2G6-associated neurodegeneration (PLA2G6) ; POLG-related disorders (POLG) ; Pontocerebellar hypoplasia, type 1A (VRK1) ; Pontocerebellar hypoplasia, type 1B (EXOSC3) ; Pontocerebellar hypoplasia, type 2B (TSEN2) ; Pontocerebellar hypoplasia, type 2E (VPS53) ; Pontocerebellar hypoplasia, type 6 (RARS2) ; Pontocerebellar hypoplasia, types 4 and 2A (TSEN54) ; Primary ciliary dyskinesia, DNAH5-related (DNAH5) ; Primary ciliary dyskinesia, DNAI1-related (DNAI1) ; Primary ciliary dyskinesia, DNAI2-related (DNAI2) ; Primary congenital glaucoma (CYP1B1) ; Primary hyperoxaluria, type I (AGXT) ; Primary hyperoxaluria, type II (GRHPR) ; Primary hyperoxaluria, type III (HOGA1) ; Progressive cerebello-cerebral atrophy (SEPSECS) ; Progressive familial intrahepatic cholestasis 1 and benign recurrent intrahepatic cholestasis 1 (ATP8B1) ; Progressive familial intrahepatic cholestasis 4 (TJP2) ; Progressive familial intrahepatic cholestasis, type 2 (ABCB11) ; Prolidase deficiency (PEPD) ; Propionic acidemia, PCCA-related (PCCA) ; Propionic acidemia, PCCB-related (PCCB) ; Pseudocholinesterase deficiency (BCHE) ; Pseudoxanthoma elasticum (ABCC6) ; Pycnodysostosis (CTSK) ; Pyridoxine-dependent epilepsy (ALDH7A1) ; Pyruvate carboxylase deficiency (PC) ; Pyruvate dehydrogenase E1-beta deficiency (PDHB) ; Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (TANGO2) ; Refsum disease (PHYH) ; Renal tubular acidosis (SLC4A4) ; Renal tubular acidosis and deafness, ATP6V1B1-related (ATP6V1B1) ; Retinitis pigmentosa 25 (EYS) ; Retinitis pigmentosa 26 (CERKL) ; Retinitis pigmentosa 28 (FAM161A) ; Retinitis pigmentosa 59 (DHDDS) ; Rhizomelic chondrodysplasia punctata, type 1 (PEX7) ; Rhizomelic chondrodysplasia punctata, type 2 (GNPAT) ; Rhizomelic chondrodysplasia punctata, type 3 (AGPS) ; Roberts-SC phocomelia syndrome (ESCO2) ; Sandhoff disease (HEXB) ; Schimke immunoosseous dysplasia (SMARCAL1) ; Schindler disease (NAGA) ; Senior-Loken syndrome 5 (IQCB1) ; Severe combined immunodeficiency, RAG1-related (RAG1) ; Severe combined immunodeficiency, RAG2-related (RAG2) ; Severe congenital neutropenia 5 (VPS45) ; Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1) ; Shwachman-Diamond syndrome (SBDS) ; Sialidosis (NEU1) ; Sjogren-Larsson syndrome (ALDH3A2) ; Skeletal dysplasias, SLC26A2-related (SLC26A2) ; Smith-Lemli-Opitz syndrome (DHCR7) ; Spastic ataxia, Charlevoix-Saguenay type (SACS) ; Spastic paraplegia, type 15 (ZFYVE26) ; Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SLC1A4) ; Spinal muscular atrophy (SMN1) ; Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2) ; Steel syndrome (COL27A1) ; Steroid resistant nephrotic syndrome, type 1 (NPHS1) ; Steroid-resistant nephrotic syndrome, type 2 (NPHS2) ; Steroid-resistant nephrotic syndrome, type 3 (PLCE1) ; Stuve-Wiedemann syndrome (LIFR) ; Surfactant dysfunction, ABCA3-related (ABCA3) ; Tay-Sachs disease (HEXA) ; TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2) ; TNXB-related classical-like Ehlers-Danlos syndrome (TNXB) ; Trichohepatoenteric syndrome 1 (TTC37) ; Trimethylaminuria (FMO3) ; Triple A syndrome (AAAS) ; Tyrosine hydroxylase deficiency (TH) ; Tyrosinemia, type I (FAH) ; Tyrosinemia, type II (TAT) ; Usher syndrome, type 1B (MYO7A) ; Usher syndrome, type 1C (USH1C) ; Usher syndrome, type 1D (CDH23) ; Usher syndrome, type 1F (PCDH15) ; Usher syndrome, type 1J (CIB2) ; Usher syndrome, type 2A (USH2A) ; Usher syndrome, type 2C (ADGRV1) ; Usher syndrome, type 3A (CLRN1) ; Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL) ; Vitamin D-dependent rickets, type 1A (CYP27B1) ; Werner syndrome (WRN) ; Wilson disease (ATP7B) ; Wolcott-Rallison syndrome (EIF2AK3) ; WWOX deficiency (WWOX) ; Xeroderma pigmentosum, group A (XPA) ; Xeroderma pigmentosum, group C (XPC) ; Zellweger spectrum disorders, PEX10-related (PEX10) ; Zellweger spectrum disorders, PEX12-related (PEX12) ; Zellweger spectrum disorders, PEX1-related (PEX1) ; Zellweger spectrum disorders, PEX26-related (PEX26) ; Zellweger spectrum disorders, PEX2-related (PEX2) ; Zellweger spectrum disorders, PEX6-related (PEX6) Categories: Price: $2726 |
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QHerit™ 421 Diseases, Female
*Build Your Own Panel Eligible [?]
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$2565 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified X-linked and autosomal recessive disorders and allows carrier screening of individuals regardless of ancestry or geographic origin. The male panel that corresponds to this female panel is QHerit™ 381 Diseases, Male (Test Code 12594). Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor.This test analyzes genes associated with 421 conditions including the 150 conditions included in QHerit™ Extended carrier screen. Conditions included in this panel include: 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency (HSD17B3) ; 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency (HSD3B2) ; 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADH) ; 3-Ketothiolase Deficiency (ACAT1) ; 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency (MCCC1) ; 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency (MCCC2) ; 3-Methylglutaconic Aciduria, Type 3 (OPA3) ; 3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH) ; 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency (PTS) ; Abetalipoproteinemia (MTTP) ; Achromatopsia (CNGB3) ; Acrodermatitis Enteropathica (SLC39A4) ; Action Myoclonus Renal Failure Syndrome (SCARB2) ; Acute Infantile Liver Failure (TRMU) ; Acyl-CoA Oxidase I Deficiency (ACOX1) ; Adenosine Deaminase Deficiency (ADA) ; Adrenoleukodystrophy, X-Linked (ABCD1) ; Agammaglobulinemia, X-Linked (BTK) ; Aicardi-Goutières Syndrome 2 (RNASEH2B) ; Aicardi-Goutières Syndrome 3 (RNASEH2C) ; Aicardi-Goutières Syndrome 4 (RNASEH2A) ; Aicardi-Goutières Syndrome 5 (SAMHD1) ; Alpha-1 Antitrypsin Deficiency (SERPINA1) ; Alpha-Mannosidosis (MAN2B1) ; Alpha-Thalassemia (HBA1/HBA2) ; Alpha-Thalassemia Intellectual Disability Syndrome, X-Linked (ATRX) ; Alport Syndrome (COL4A3) ; Alport Syndrome (COL4A4) ; Alport Syndrome, X-Linked (COL4A5) ; Alstrom Syndrome (ALMS1) ; Amish Infantile Epilepsy Syndrome (ST3GAL5) ; Andermann Syndrome (SLC12A6) ; Argininemia (ARG1) ; Argininosuccinic Aciduria (ASL) ; Aromatase Deficiency (CYP19A1) ; Arthrogryposis, Mental Retardation, And Seizures (SLC35A3) ; ARTS Syndrome, X-Linked (PRPS1) ; Asparagine Synthetase Deficiency (ASNS) ; Aspartylglycosaminuria (AGA) ; Ataxia With Vitamin E Deficiency (TTPA) ; Ataxia-Telangiectasia (ATM) ; Ataxia-Telangiectasia-Like Disorder (MRE11) ; ATP7A-Related Disorders (Menkes Disease, Occipital Horn Syndrome), X-Linked (ATP7A) ; Autoimmune Polyglandular Syndrome, Type 1 (AIRE) ; Autosomal Recessive Polycystic Kidney Disease (PKHD1) ; Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay (SACS) ; Bardet-Biedl Syndrome 1 (BBS1) ; Bardet-Biedl Syndrome 10 (BBS10) ; Bardet-Biedl Syndrome 12 (BBS12) ; Bardet-Biedl Syndrome 2 (BBS2) ; Bardet-Biedl Syndrome 4 (BBS4) ; Bardet-Biedl Syndrome 6 (MKKS) ; Bardet-Biedl Syndrome 7 (BBS7) ; Bardet-Biedl Syndrome 8 (TTC8) ; Bardet-Biedl Syndrome 9 (BBS9) ; Bare Lymphocyte Syndrome, Type II (CIITA) ; Barth Syndrome, X-Linked (TAFAZZIN) ; Bartter Syndrome, Type IV (BSND) ; Bernard-Soulier Syndrome, Type A1 (GP1BA) ; Bernard-Soulier Syndrome, Type C (GP9) ; Beta Hemoglobinopathies (HBB) ; Beta-Ureidopropionase Deficiency (UPB1) ; Bilateral Frontoparietal Polymicrogyria (ADGRG1) ; Biotinidase Deficiency (BTD) ; Bloom Syndrome (BLM) ; Canavan Disease (ASPA) ; Carbamoyl Phosphate Synthetase I Deficiency (CPS1) ; Carnitine Palmitoyltransferase I Deficiency (CPT1A) ; Carnitine Palmitoyltransferase II Deficiency (CPT2) ; Carnitine-Acylcarnitine Translocase Deficiency (SLC25A20) ; Carpenter Syndrome (RAB23) ; Cartilage-Hair Hypoplasia (RMRP) ; Cerebrotendinous Xanthomatosis (CYP27A1) ; Charcot-Marie-Tooth Disease, Type 4D (NDRG1) ; Charcot-Marie-Tooth Disease, X-Linked Type 1 (GJB1) ; Chediak-Higashi Syndrome (LYST) ; Cholestasis, Benign Recurrent Intrahepatic (ATP8B1) ; Cholestasis, Progressive Familial Intrahepatic 4 (TJP2) ; Cholesteryl Ester Storage Disease (LIPA) ; Choreoacanthocytosis (VPS13A) ; Choroideremia, X-Linked (CHM) ; Chronic Granulomatous Disease, Cytochrome B-Negative (CYBA) ; Chronic Granulomatous, X-Linked (CYBB) ; Ciliopathies, RPGRIP1L-Related (RPGRIP1L) ; Citrin Deficiency (SLC25A13) ; Citrullinemia, Type I (ASS1) ; Cockayne Syndrome Type A (ERCC8) ; Cohen Syndrome (VPS13B) ; Combined Malonic And Methylmalonic Aciduria (ACSF3) ; Combined Oxidative Phosphorylation Deficiency 3 (TSFM) ; Combined Oxidative Phosphorylation Deficiency 4 (GFM1) ; Combined Oxidative Phosphorylation Deficiency 6, X-Linked (AIFM1) ; Combined Pituitary Hormone Deficiency 2 (PROP1) ; Combined Pituitary Hormone Deficiency 3 (LHX3) ; Congenital Adrenal Hyperplasia, 11-Beta-Hydroxylase Deficiency (CYP11B1) ; Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency (CYP17A1) ; Congenital Adrenal Hyperplasia, 21-Hydroxylase Deficiency (CYP21A2) ; Congenital Amegakaryocytic Thrombocytopenia (MPL) ; Congenital Disorder Of Glycosylation, Type IA (PMM2) ; Congenital Disorder Of Glycosylation, Type IB (MPI) ; Congenital Disorder Of Glycosylation, Type IC (ALG6) ; Congenital Ichthyosis (ABCA12) ; Congenital Insensitivity To Pain With Anhidrosis (CIPA) (NTRK1) ; Congenital Lipoid Adrenal Hyperplasia (STAR) ; Congenital Muscular Dystrophy Type 1A (LAMA2) ; Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1 (POMT1) ; Congenital Myasthenic Syndrome (CHAT) ; Congenital Myasthenic Syndrome (CHRNE) ; Congenital Myasthenic Syndrome (DOK7) ; Congenital Myasthenic Syndrome (RAPSN) ; Congenital Neutropenia (HAX1) ; Congenital Neutropenia (VPS45) ; Corneal Dystrophy And Perceptive Deafness Syndrome (SLC4A11) ; Corticosterone Methyloxidase Deficiency (CYP11B2) ; CRASH Syndrome, X-Linked (L1CAM) ; CRB1-Related Retinal Dystrophies (CRB1) ; Creatine Transporter Defect, X-Linked (SLC6A8) ; Cystic Fibrosis (CFTR) ; Cystinosis (CTNS) ; D-Bifunctional Protein Deficiency (HSD17B4) ; De Sanctis-Cacchione Syndrome (ERCC6) ; Deafness, Autosomal Recessive 48 (CIB2) ; Deafness, Autosomal Recessive 77 (LOXHD1) ; Dent Disease, X-Linked (CLCN5) ; Desbuquois Dysplasia, Type I (CANT1) ; Developmental Delay And Microencephaly (SLC1A4) ; Dihydrolipoamide Dehydrogenase Deficiency (DLD) ; Dihydropyrimidine Dehydrogenase Deficiency (DPYD) ; Duchenne / Becker Muscular Dystrophy, X-Linked (DMD) ; Dyskeratosis Congenita (RTEL1) ; Dyskeratosis Congenita, X-Linked (DKC1) ; Dystrophic Epidermolysis Bullosa (COL7A1) ; Ehlers-Danlos Syndrome, Type VIIC (ADAMTS2) ; Ellis-Van Creveld Syndrome (EVC) ; Ellis-Van Creveld Syndrome (EVC2) ; Emery-Dreifuss Muscular Dystrophy, X-Linked (EMD) ; Enhanced S-Cone Syndrome (NR2E3) ; Ethylmalonic Encephalopathy (ETHE1) ; Fabry Disease, X-Linked (GLA) ; Factor XI Deficiency (F11) ; Familial Dysautonomia (ELP1) ; Familial Hemophagocytic Lymphohistiocytosis-2 (PRF1) ; Familial Hemophagocytic Lymphohistiocytosis-4 (STX11) ; Familial Hemophagocytic Lymphohistiocytosis-5 (STXBP2) ; Familial Hypercholesterolemia (LDLR) ; Familial Hypercholesterolemia (LDLRAP1) ; Familial Hyperinsulinism (ABCC8) ; Familial Hyperinsulinism (KCNJ11) ; Familial Mediterranean Fever (MEFV) ; Fanconi Anemia, Type A (FANCA) ; Fanconi Anemia, Type B, X-Linked (FANCB) ; Fanconi Anemia, Type C (FANCC) ; Fanconi Anemia, Type D2 (FANCD2) ; Fanconi Anemia, Type E (FANCE) ; Fanconi Anemia, Type F (FANCF) ; Fanconi Anemia, Type G (FANCL) ; Fanconi Anemia, Type I (FANCI) ; Fanconi Anemia, Type L (FANCL) ; Farber Lipogranulomatosis (ASAH1) ; Fragile X Syndrome (FMR1) ; Fukuyama congenital muscular dystrophy (FKTN) ; Fumarase Deficiency (FH) ; GABA-Transaminase Deficiency (ABAT) ; Galactokinase Deficiency (GALK1) ; Galactosemia (GALT) ; Galactosialidosis (CTSA) ; Gaucher Disease (GBA) ; Gitelman Syndrome (SLC12A3) ; Glucose-6-Phosphate Dehydrogenase Deficiency, X-Linked (G6PD) ; Glutaric Acidemia, Type I (GCDH) ; Glutaric Acidemia, Type IIA (ETFA) ; Glutaric Acidemia, Type IIB (ETFB) ; Glutaric Acidemia, Type IIC (ETFDH) ; Glycine Encephalopathy (AMT) ; Glycine Encephalopathy (GLDC) ; Glycogen Storage Disease, Type IA (G6PC1) ; Glycogen Storage Disease, Type IB (SLC37A4) ; Glycogen Storage Disease, Type II, Pompe Disease (GAA) ; Glycogen Storage Disease, Type III (AGL) ; Glycogen Storage Disease, Type IV (GBE1) ; Glycogen Storage Disease, Type V (PYGM) ; Glycogen Storage Disease, Type VII (PFKM) ; GM1 Gangliosidosis (GLB1) ; GRACILE Syndrome (BCS1L) ; Guanidinoacetate Methyltransferase Deficiency (GAMT) ; Hemophilia B, X-Linked (F9) ; Hepatocerebral Mitochondrial DNA Depletion Syndrome (MPV17) ; Hereditary Fructose Intolerance (ALDOB) ; Hereditary Hemochromatosis (HJV) ; Hereditary Hemochromatosis (TFR2) ; Hereditary Spastic Paraparesis, Type 49 (TECPR2) ; Hermansky-Pudlak Syndrome (AP3B1) ; Hermansky-Pudlak Syndrome (HPS1) ; Hermansky-Pudlak Syndrome (HPS3) ; Hermansky-Pudlak Syndrome (HPS4) ; HMG-CoA Lyase Deficiency (HMGCL) ; Holocarboxylase Synthetase Deficiency (HLCS) ; Homocystinuria (MTHFR) ; Homocystinuria (CBS) ; Homocystinuria, Type cblE (MTRR) ; HPRT-Related Gout, X-Linked (HPRT1) ; Hydrolethalus Syndrome (HYLS1) ; Hyperphosphatemic Familial Tumoral Calcinosis (GALNT3) ; Hypohidrotic Ectodermal Dysplasia, X-Linked (EDA) ; Hypophosphatasia (ALPL) ; Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked (FOXP3) ; Inclusion Body Myopathy 2 (GNE) ; Infantile Cerebral And Cerebellar Atrophy (MED17) ; Infantile Neuroaxonal Dystrophy 2 (PLA2G6) ; Infantile Spinal Muscular Atrophy, X-Linked (UBA1) ; Isovaleric Acidemia (IVD) ; Johanson-Blizzard Syndrome (UBR1) ; Joubert Syndrome 1 (INPP5E) ; Joubert Syndrome 15 (CEP41) ; Joubert Syndrome 2 (TMEM216) ; Joubert Syndrome 21 (CSPP1) ; Joubert Syndrome 25 (CEP104) ; Joubert Syndrome 27 (B9D1) ; Joubert Syndrome 3 (AHI1) ; Joubert Syndrome 31 (CEP120) ; Joubert Syndrome 34 (B9D2) ; Joubert Syndrome 8 (ARL13B) ; Junctional Epidermolysis Bullosa (LAMA3) ; Junctional Epidermolysis Bullosa (LAMB3) ; Junctional Epidermolysis Bullosa (LAMC2) ; Juvenile Nephronophthisis (INVS) ; Juvenile Nephronophthisis (NPHP1) ; Juvenile Retinoschisis, X-Linked (RS1) ; Krabbe Disease (GALC) ; Lamellar Ichthyosis, Type I (TGM1) ; Leber Congenital Amaurosis (CEP290) ; Leber Congenital Amaurosis (LCA5) ; Leber Congenital Amaurosis (RPE65) ; Leber Congential Amaurosis (RDH12) ; Leigh Syndrome, French-Canadian (LRPPRC) ; Lethal Congenital Contracture Syndrome 1 (GLE1) ; Leukoencephalopathy With Vanishing White Matter (EIF2B5) ; Limb-Girdle Muscular Dystrophy, Type 2A (CAPN3) ; Limb-Girdle Muscular Dystrophy, Type 2B (DYSF) ; Limb-Girdle Muscular Dystrophy, Type 2C (SGCG) ; Limb-Girdle Muscular Dystrophy, Type 2D (SGCA) ; Limb-Girdle Muscular Dystrophy, Type 2E (SGCB) ; Limb-Girdle Muscular Dystrophy, Type 2F (SGCD) ; Limb-Girdle Muscular Dystrophy, Type 2I (FKRP) ; Lipoprotein Lipase Deficiency (LPL) ; Lissencephaly, X-Linked 2 (ARX) ; Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA) ; Lowe Syndrome, X-Linked (OCRL) ; Lysinuric Protein Intolerance (SLC7A7) ; Malonyl-CoA Decarboxylase Deficiency (MLYCD) ; Maple Syrup Urine Disease, Type 1A (BCKDHA) ; Maple Syrup Urine Disease, Type 1B (BCKDHB) ; Maple Syrup Urine Disease, Type 2 (DBT) ; Meckel Syndrome 6 (CC2D2A) ; Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) ; Mednik Syndrome (AP1S1) ; Megalencephalic Leukoencephalopathy With Subcortical Cysts (MLC1) ; Metachromatic Leukodystrophy (ARSA) ; Metachromatic Leukodystrophy (PSAP) ; Methylmalonic Aciduria (MMAA) ; Methylmalonic Aciduria (MMAB) ; Methylmalonic Aciduria (MMUT) ; Methylmalonic Aciduria, Type cblC (MMACHC) ; Methylmalonic Aciduria, Type cblD (MMADHC) ; Micropthalmia / Anopthalmia (VSX2) ; Mitochondrial Complex I Deficiency (NDUFAF5) ; Mitochondrial Complex I Deficiency (NDUFS6) ; Mitochondrial Complex I Deficiency, Nuclear Type 1 (NDUFS4) ; Mitochondrial Complex I Deficiency, Nuclear Type 17 (NDUFAF6) ; Mitochondrial Complex IV Deficiency (PET100) ; Mitochondrial Myopathy And Sideroblastic Anemia (PUS1) ; Mitochondrial Trifunctional Protein Deficiency (HADHB) ; MKS1-Related Disorders (MKS1) ; Molybdenum Cofactor Deficiency Of Complementation Group A (MOCS1) ; Mucolipidosis III Gamma (GNPTG) ; Mucolipidosis, Type II / III Alpha / Beta (GNPTAB) ; Mucolipidosis, Type IV (MCOLN1) ; Mucopolysaccharidosis Type I, Hurler Syndrome (IDUA) ; Mucopolysaccharidosis Type II, Hunter Syndrome, X-Linked (IDS) ; Mucopolysaccharidosis Type IIIA, Sanfilippo A (SGSH) ; Mucopolysaccharidosis Type IIIB, Sanfilippo B (NAGLU) ; Mucopolysaccharidosis Type IIIC, Sanfilippo C (HGSNAT) ; Mucopolysaccharidosis Type IIID, Sanfilippo D (GNS) ; Mucopolysaccharidosis Type IVA, Morquio Syndrome (GALNS) ; Mucopolysaccharidosis Type IX, Natowicz Syndrome (HYAL1) ; Mucopolysaccharidosis Type VI, Maroteaux-Lamy Syndrome (ARSB) ; Mucopolysaccharidosis Type VII, Sly Syndrome (GUSB) ; Mulibrey Nanism (TRIM37) ; Multiple Pterygium Syndrome, Lethal Type (CHRNG) ; Multiple Sulfatase Deficiency (SUMF1) ; Muscle-Eye-Brain Disease (POMGNT1) ; Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A6 (LARGE1) ; Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A7 (CRPPA) ; Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B2 (POMT2) ; Myasthenic Syndrome, Congenital, 5 (COLQ) ; Myoneurogastrointestinal Encephalopathy (TYMP) ; Myotubular Myopathy, X-Linked (MTM1) ; N-Acetylglutamate Synthase Deficiency (NAGS) ; Nemaline Myopathy 2 (NEB) ; Nephrogenic Diabetes Insipidus (AQP2) ; Nephrotic Syndrome (PLCE1) ; Nephrotic Syndrome, Type 1, Congenital Finnish Nephrosis (NPHS1) ; Neuronal Ceroid Lipofuscinosis (CLN3) ; Neuronal Ceroid Lipofuscinosis (CLN5) ; Neuronal Ceroid Lipofuscinosis (CLN6) ; Neuronal Ceroid Lipofuscinosis (CLN8) ; Neuronal Ceroid Lipofuscinosis (MFSD8) ; Neuronal Ceroid Lipofuscinosis (PPT1) ; Neuronal Ceroid Lipofuscinosis (TPP1) ; Neuronal Ceroid Lipofuscinosis, CTSD-Related (CTSD) ; Niemann-Pick Disease, Type A / B (SMPD1) ; Niemann-Pick Disease, Type CI / D (NPC1) ; Niemann-Pick Disease, Type CII (NPC2) ; Nijmegen Breakage Syndrome (NBN) ; Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2) ; Nonsyndromic Hearing Loss and Deafness, DFNB3 (MYO15A) ; Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome (WNT10A) ; Omenn Syndrome (DCLRE1C) ; Omenn Syndrome (RAG2) ; Ornithine Aminotransferase Deficiency (OAT) ; Ornithine Transcarbamylase Deficiency, X-Linked (OTC) ; Ornithine Translocase Deficiency (SLC25A15) ; Orofaciodigital Syndrome VI (CPLANE1) ; Orofaciodigital Syndrome XIV (C2CD3) ; Osteopetrosis, Infantile Malignant (TCIRG1) ; Pendred Syndrome (SLC26A4) ; Perlman Syndrome (DIS3L2) ; Peroxisome Biogenesis Disorder 3B (PEX12) ; Phenylketonuria (PAH) ; POLG-Related Disorders (POLG) ; Pontocerebellar Hypoplasia (EXOSC3) ; Pontocerebellar Hypoplasia (RARS2) ; Pontocerebellar Hypoplasia (TSEN2) ; Pontocerebellar Hypoplasia (TSEN54) ; Pontocerebellar Hypoplasia (VPS53) ; Pontocerebellar Hypoplasia (VRK1) ; Primary Ciliary Dyskinesia (DNAH5) ; Primary Ciliary Dyskinesia (DNAI1) ; Primary Ciliary Dyskinesia (DNAI2) ; Primary Congenital Glaucoma (CYP1B1) ; Primary Hyperoxaluria, Type I (AGXT) ; Primary Hyperoxaluria, Type II (GRHPR) ; Primary Hyperoxaluria, Type III (HOGA1) ; Progressive Cerebello-Cerebral Atrophy (SEPSECS) ; Progressive Familial Intrahepatic Cholestasis, Type II (ABCB11) ; Prolidase Deficiency (PEPD) ; Propionic Acidemia (PCCA) ; Propionic Acidemia (PCCB) ; Pseudocholinesterase Deficiency (BCHE) ; Pseudoxanthoma Elasticum (ABCC6) ; Pycnodysostosis (CTSK) ; Pyridoxine-Dependent Epilepsy (ALDH7A1) ; Pyruvate Carboxylase Deficiency (PC) ; Pyruvate Dehydrogenase Deficiency (PDHB) ; Pyruvate Dehydrogenase Deficiency, X-Linked (PDHA1) ; Recurrent Metabolic Crises With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration (TANGO2) ; Refsum Disease (PHYH) ; Renal Tubular Acidosis (SLC4A4) ; Renal Tubular Acidosis And Deafness (ATP6V1B1) ; Renal-Hepatic-Pancreatic Dysplasia 1 (NPHP3) ; Retinitis Pigmentosa 25 (EYS) ; Retinitis Pigmentosa 26 (CERKL) ; Retinitis Pigmentosa 28 (FAM161A) ; Retinitis Pigmentosa 59 (DHDDS) ; Rhizomelic Chondrodysplasia Punctata, Type 1 (PEX7) ; Rhizomelic Chondrodysplasia Punctata, Type 2 (GNPAT) ; Rhizomelic Chondrodysplasia Punctata, Type 3 (AGPS) ; Riboflavin Responsive Complex 1 Deficiency (ACAD9) ; Roberts Syndrome (ESCO2) ; Salla Disease (SLC17A5) ; Sandhoff Disease (HEXB) ; Schimke Immunoosseous Dysplasia (SMARCAL1) ; Senior-Loken Syndrome 4 (NPHP4) ; Senior-Loken Syndrome 5 (IQCB1) ; Severe Combined Immunodeficiency, X-Linked (IL2RG) ; Shwachman-Diamond Syndrome (SBDS) ; Sialidosis, Type II (NEU1) ; Sjogren-Larsson Syndrome (ALDH3A2) ; SLC26A2-Related Skeletal Dysplasias (SLC26A2) ; Smith-Lemli-Opitz Syndrome (DHCR7) ; Spastic Paraplegia Type 15 (ZFYVE26) ; Spinal Muscular Atrophy (SMN1) ; Spinocerebellar Ataxia-12 (WWOX) ; Spondylothoracic Dysostosis (MESP2) ; Steel Syndrome (COL27A1) ; Steroid Resistant Nephrotic Syndrome (NPHS2) ; Stuve-Wiedemann Syndrome (LIFR) ; Systemic Primary Carnitine Deficiency (SLC22A5) ; T Cell-Negative (T-), B Cell-Negative (B-), Natural Killer Cellpositive (NK +) Severe Combined Immunodeficiency (RAG1) ; Tay-Sachs Disease (HEXA) ; Trichohepatoenteric Syndrome 1 (TTC37) ; Trichothiodystrophy 1, Photosensitive (ERCC2) ; Triple A Syndrome (AAAS) ; Tyrosine Hydroxylase Deficiency (TH) ; Tyrosinemia, Type I (FAH) ; Tyrosinemia, Type II (TAT) ; Usher Syndrome, Type 2C (ADGRV1) ; Usher Syndrome, Type IB (MYO7A) ; Usher Syndrome, Type IC (USH1C) ; Usher Syndrome, Type ID (CDH23) ; Usher Syndrome, Type IF (PCDH15) ; Usher Syndrome, Type IIA (USH2A) ; Usher Syndrome, Type IIIA (CLRN1) ; Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) ; Vitamin D-Dependent Rickets, Type I (CYP27B1) ;; Werner Syndrome (WRN) ; Wilson Disease (ATP7B) ; Wiskott-Aldrich Syndrome, X-Linked (WAS) ; Wolcott-Rallison Syndrome; Epiphyseal Dysplasia, Multiple With Early-Onset Diabetes Mellitus (EIF2AK3) ; Xeroderma Pigmentosum, Group A (XPA) ; Xeroderma Pigmentosum, Group C (XPC) ; X-Linked Chondrodysplasia Punctata 1 (ARSL) ; X-Linked Congenital Adrenal Hypoplasia (NR0B1) ; X-Linked Heterotaxy-1 And Multiple Types Of Congenital Heart Defects-1 (ZIC3) ; X-Linked Hyper IgM Syndrome (CD40LG) ; X-Linked Lissencephaly-1 (DCX) ; Zellweger Spectrum Disorders (PEX1) ; Zellweger Spectrum Disorders (PEX2) ; Zellweger Spectrum Disorders (PEX26) ; Zellweger Spectrum Disorders (PEX6) ; Zellweger Spectrum Disorders (PEX10). Categories: Price: $2565 |
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QHerit™ 445 Diseases, Female
*Build Your Own Panel Eligible [?]
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$2726 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified X-linked and autosomal recessive disorders and allows screening of individuals regardless of ancestry or geographic origin. The male panel that corresponds to this female panel is QHerit™ 400 Diseases, Male (Test Code 13831). Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making; this large panel may be particularly useful in the pre-conception or fertility setting. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor.This test analyzes genes associated with 445 conditions including the 421 conditions included in QHerit™ 421 Diseases, female carrier screen. Conditions included in this panel include:17-beta-hydroxysteroid dehydrogenase deficiency, type III (HSD17B3) ; 3-beta-hydroxysteroid dehydrogenase deficiency, type II (HSD3B2) ; 3-hydroxy-3-methylglutaryl-coA lyase deficiency (HMGCL) ; 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH) ; 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1) ; 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2) ; 3-methylglutaconic aciduria, type III / Costeff syndrome (OPA3) ; 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS) ; Abetalipoproteinemia (MTTP) ; Achromatopsia, CNGB3-related (CNGB3) ; Acrodermatitis enteropathica (SLC39A4) ; Action myoclonus renal failure syndrome (SCARB2) ; Acute infantile liver failure (TRMU) ; Adenosine deaminase deficiency (ADA) ; Adrenoleukodystrophy, X-linked (ABCD1) ; Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6) ; Aicardi-Goutieres syndrome 2 (RNASEH2B) ; Aicardi-Goutieres syndrome 3 (RNASEH2C) ; Aicardi-Goutieres syndrome 4 (RNASEH2A) ; Aicardi-Goutieres syndrome 5 (SAMHD1) ; Alpha-1 antitrypsin deficiency (SERPINA1) ; Alpha-mannosidosis (MAN2B1) ; Alpha-thalassemia (HBA1/HBA2) ; Alpha-thalassemia intellectual disability syndrome, X-linked (ATRX) ; Alport syndrome, COL4A3-related (COL4A3) ; Alport syndrome, COL4A4-related (COL4A4) ; Alport syndrome, COL4A5-related, X-linked (COL4A5) ; Alstrom Syndrome (ALMS1) ; Amish infantile epilepsy syndrome (ST3GAL5) ; Argininemia (ARG1) ; Argininosuccinic aciduria (ASL) ; Aromatase deficiency (CYP19A1) ; Arthrogryposis, mental retardation, and seizures (SLC35A3) ; Asparagine synthetase deficiency (ASNS) ; Aspartylglycosaminuria (AGA) ; Ataxia with isolated vitamin E deficiency (TTPA) ; Ataxia-telangiectasia (ATM) ; Ataxia-telangiectasia-like disorder 1 (MRE11) ; Atransferrinemia (TF) ; Autoimmune polyglandular syndrome, type 1 (AIRE) ; Autosomal recessive congenital ichthyosis (TGM1) ; Autosomal recessive polycystic kidney disease (PKHD1) ; Autosomal recessive primary microcephaly 1 (MCPH1) ; Autosomal recessive spinocerebellar ataxia, type 10 (ANO10) ; Bardet-Biedl syndrome 1 (BBS1) ; Bardet-Biedl syndrome 10 (BBS10) ; Bardet-Biedl syndrome 12 (BBS12) ; Bardet-Biedl syndrome 2 (BBS2) ; Bardet-Biedl syndrome 4 (BBS4) ; Bardet-Biedl syndrome 6 (MKKS) ; Bardet-Biedl syndrome 7 (BBS7) ; Bardet-Biedl syndrome 8 (TTC8) ; Bardet-Biedl syndrome 9 (BBS9) ; Bare lymphocyte syndrome, type II (CIITA) ; Barth syndrome (TAFAZZIN) ; Bartter syndrome, type 4A (BSND) ; Bernard-Soulier syndrome, type A (GP1BA) ; Bernard-Soulier syndrome, type C (GP9) ; Beta hemoglobinopathies (HBB) ; Beta-ketothiolase deficiency (ACAT1) ; Beta-ureidopropionase deficiency (UPB1) ; Bilateral frontoparietal polymicrogyria (ADGRG1) ; Biotinidase deficiency (BTD) ; Biotin-thiamine-responsive basal ganglia disease (SLC19A3) ; Bloom syndrome (BLM) ; Canavan disease (ASPA) ; Carbamoyl phosphate synthetase I deficiency (CPS1) ; Carnitine deficiency, systemic primary (SLC22A5) ; Carnitine palmitoyltransferase I deficiency (CPT1A) ; Carnitine palmitoyltransferase II deficiency (CPT2) ; Carnitine-acylcarnitine translocase deficiency (SLC25A20) ; Carpenter syndrome (RAB23) ; Cartilage-hair hypoplasia (RMRP) ; Cerebrooculofacioskeletal syndrome 1 / Cockayne syndrome, type B (ERCC6) ; Cerebrotendinous xanthomatosis (CYP27A1) ; Charcot-Marie-Tooth disease, type 1X (GJB1) ; Charcot-Marie-Tooth disease, type 4D (NDRG1) ; Chediak-Higashi syndrome (LYST) ; Choreoacanthocytosis (VPS13A) ; Choroideremia, X-linked (CHM) ; Chronic granulomatous disease 4 (CYBA) ; Chronic granulomatous disease, X-linked (CYBB) ; Ciliopathies, RPGRIP1L-related (RPGRIP1L) ; Citrin deficiency / Citrullinemia, type II (SLC25A13) ; Citrullinemia, type I (ASS1) ; Cockayne syndrome, type A (ERCC8) ; Cohen syndrome (VPS13B) ; Combined malonic and methylmalonic aciduria (ACSF3) ; Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC) ; Combined methylmalonic aciduria and homocystinuria, cblD type / Cobalamin D deficiency (MMADHC) ; Combined oxidative phosphorylation deficiency 1 (GFM1) ; Combined oxidative phosphorylation deficiency 3 (TSFM) ; Combined oxidative phosphorylation deficiency 6 (AIFM1) ; Combined pituitary hormone deficiency, type 2 (PROP1) ; Combined pituitary hormone deficiency, type 3 (LHX3) ; Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency (CYP11B1) ; Congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency (CYP17A1) ; Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2) ; Congenital adrenal insufficiency, CYP11A1-related (CYP11A1) ; Congenital amegakaryocytic thrombocytopenia (MPL) ; Congenital disorder of glycosylation, type Ia (PMM2) ; Congenital disorder of glycosylation, type Ib (MPI) ; Congenital disorder of glycosylation, type Ic (ALG6) ; Congenital hydrocephalus 1 (CCDC88C) ; Congenital ichthyosis, ABCA12-related (ABCA12) ; Congenital insensitivity to pain with anhidrosis (NTRK1) ; Congenital myasthenic syndrome, CHAT-related (CHAT) ; Congenital myasthenic syndrome, CHRNE-related (CHRNE) ; Congenital myasthenic syndrome, COLQ-related (COLQ) ; Congenital myasthenic syndrome, DOK7-related (DOK7) ; Congenital myasthenic syndrome, RAPSN-related (RAPSN) ; Congenital neutropenia, HAX1-related (HAX1) ; Corneal dystrophy and perceptive deafness syndrome (SLC4A11) ; Corticosterone methyloxidase deficiency (CYP11B2) ; CRB1-related retinal dystrophies (CRB1) ; Creatine Transporter Defect, SLC6A8-related, X-linked / Cerebral creatine deficiency syndrome (SLC6A8) ; Cystic fibrosis (CFTR) ; Cystinosis (CTNS) ; D-bifunctional protein deficiency (HSD17B4) ; DCX-related disorders (DCX) ; Dent disease 1 (CLCN5) ; Desbuquois dysplasia, type I (CANT1) ; Dihydrolipoamide dehydrogenase deficiency (DLD) ; Dihydropyrimidine dehydrogenase deficiency (DPYD) ; Donnai-Barrow syndrome (LRP2) ; Duchenne/Becker muscular dystrophy, X-linked (DMD) ; Dyskeratosis congenita, RTEL1-related (RTEL1) ; Dyskeratosis congenita, X-linked (DKC1) ; Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1) ; Ehlers-Danlos syndrome, dermatosparaxis type (ADAMTS2) ; Ellis-van Creveld syndrome (EVC2) ; Ellis-van Creveld syndrome (EVC) ; Emery-Dreifuss muscular dystrophy, X-linked (EMD) ; Enhanced S-cone syndrome (NR2E3) ; ERCC2-related conditions (ERCC2) ; Ethylmalonic encephalopathy (ETHE1) ; Fabry disease, X-linked (GLA) ; Factor IX deficiency / Hemophilia B (F9) ; Factor XI deficiency / Hemophilia C (F11) ; Factory VIII deficiency / Hemophilia A (F8) ; Familial dysautonomia (ELP1) ; Familial hemophagocytic lymphohistiocytosis 2 (PRF1) ; Familial hemophagocytic lymphohistiocytosis 4 (STX11) ; Familial hemophagocytic lymphohistiocytosis 5 (STXBP2) ; Familial hypercholesterolemia, LDLRAP1-related (LDLRAP1) ; Familial hypercholesterolemia, LDLR-related (LDLR) ; Familial hyperinsulinism, ABCC8-related (ABCC8) ; Familial hyperinsulinism, KCNJ11-related (KCNJ11) ; Familial Mediterranean fever (MEFV) ; Fanconi anemia, complementation group A (FANCA) ; Fanconi anemia, complementation group B (FANCB) ; Fanconi anemia, complementation group C (FANCC) ; Fanconi anemia, complementation group D2 (FANCD2) ; Fanconi anemia, complementation group E (FANCE) ; Fanconi anemia, complementation group F (FANCF) ; Fanconi anemia, complementation group G (FANCG) ; Fanconi anemia, complementation group I (FANCI) ; Fanconi anemia, complementation group L (FANCL) ; Farber lipogranulomatosis (ASAH1) ; Fragile X syndrome (FMR1) ; Fragile XE syndrome (AFF2) ; Fraser syndrome, type 3 (GRIP1) ; Free sialic acid storage disorders (SLC17A5) ; Friedreich ataxia (FXN) ; Fukuyama congenital muscular dystrophy (FKTN) ; Fumarase deficiency (FH) ; GABA-transaminase deficiency (ABAT) ; Galactosemia (GALT) ; Galactosemia, type II / Galactokinase deficiency (GALK1) ; Galactosialidosis (CTSA) ; Gaucher disease (GBA) ; Gitelman syndrome (SLC12A3) ; GLB1-related disorders (GLB1) ; Glucose-6-phosphate dehydrogenase deficiency (G6PD) ; Glutaric acidemia, type I (GCDH) ; Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC) ; Glycine encephalopathy, AMT-related (AMT) ; Glycogen storage disease, type Ia (G6PC) ; Glycogen storage disease, type Ib / IIw (SLC37A4) ; Glycogen storage disease, type II / Pompe disease (GAA) ; Glycogen storage disease, type III (AGL) ; Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1) ; Glycogen storage disease, type V (PYGM) ; Glycogen storage disease, type VII (PFKM) ; GNE myopathy (GNE) ; GRACILE syndrome (BCS1L) ; Guanidinoacetate methyltransferase deficiency (GAMT) ; Hereditary fructose intolerance (ALDOB) ; Hereditary hemochromatosis, type 2 (HJV) ; Hereditary hemochromatosis, type 3 (TFR2) ; Hermansky-Pudlak syndrome, type 1 (HPS1) ; Hermansky-Pudlak syndrome, type 2 (AP3B1) ; Hermansky-Pudlak syndrome, type 3 (HPS3) ; Hermansky-Pudlak syndrome, type 4 (HPS4) ; Holocarboxylase synthetase deficiency (HLCS) ; Homocystinuria caused by methylenetetrahydrofolate reductase (MTHFR) deficiency (MTHFR) ; Homocystinuria, CBS-related (CBS) ; Homocystinuria, type cblE (MTRR) ; HPRT1-related disorders (HPRT1) ; Hydrolethalus syndrome (HYLS1) ; Hyperphosphatemic familial tumoral calcinosis (GALNT3) ; Hypohidrotic ectodermal dysplasia, X-linked (EDA) ; Hypophosphatasia (ALPL) ; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (FOXP3) ; Infantile cerebral and cerebellar atrophy (MED17) ; Isovaleric acidemia (IVD) ; Johanson-Blizzard syndrome (UBR1) ; Joubert syndrome 1 (INPP5E) ; Joubert syndrome 15 (CEP41) ; Joubert syndrome 17 (CPLANE1) ; Joubert syndrome 2 (TMEM216) ; Joubert syndrome 21 (CSPP1) ; Joubert syndrome 25 (CEP104) ; Joubert syndrome 27 (B9D1) ; Joubert syndrome 3 (AHI1) ; Joubert syndrome 31 (CEP120) ; Joubert syndrome 34 (B9D2) ; Joubert syndrome 8 (ARL13B) ; Joubert syndrome 9 (CC2D2A) ; Junctional epidermolysis bullosa, LAMA3-related (LAMA3) ; Junctional epidermolysis bullosa, LAMB3-related (LAMB3) ; Junctional epidermolysis bullosa, LAMC2-related (LAMC2) ; Juvenile retinoschisis, X-linked (RS1) ; Krabbe disease (GALC) ; L1 syndrome (L1CAM) ; LAMA2 muscular dystrophy (LAMA2) ; Leber congenital amaurosis 13 (RDH12) ; Leber congenital amaurosis 2 (RPE65) ; Leber congenital amaurosis 5 (LCA5) ; Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290) ; Lethal congenital contracture syndrome 1 (GLE1) ; Leukoencephalopathy with vanishing white matter (EIF2B5) ; Limb-girdle muscular dystrophy, type 2A (CAPN3) ; Limb-girdle muscular dystrophy, type 2B (DYSF) ; Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP) ; Limb-girdle muscular dystrophy, type 3 (SGCA) ; Limb-girdle muscular dystrophy, type 4 (SGCB) ; Limb-girdle muscular dystrophy, type 5 (SGCG) ; Limb-girdle muscular dystrophy, type 6 (SGCD) ; Lipoid congenital adrenal hyperplasia (STAR) ; Lipoprotein lipase deficiency (LPL) ; Long chain 3-hydroxyacyl-coa dehydrogenase deficiency (HADHA) ; Lowe syndrome, X-linked (OCRL) ; Lysinuric protein intolerance (SLC7A7) ; Lysosomal acid lipase deficiency (LIPA) ; Malonyl-CoA decarboxylase deficiency (MLYCD) ; Maple syrup urine disease, type 1A (BCKDHA) ; Maple syrup urine disease, type 1B (BCKDHB) ; Maple syrup urine disease, type 2 (DBT) ; Medium chain acyl-CoA dehydrogenase deficiency (ACADM) ; MEDNIK syndrome (AP1S1) ; Megalencephalic leukoencephalopathy with subcortical cysts (MLC1) ; Menkes disease (ATP7A) ; Metachromatic leukodystrophy due to saposin B deficiency (PSAP) ; Metachromatic leukodystrophy, ARSA-related (ARSA) ; Methylmalonic aciduria, MMAA-related (MMAA) ; Methylmalonic aciduria, MMAB-related (MMAB) ; Methylmalonic aciduria, MMUT-related (MMUT) ; Mevalonic aciduria / Hyper-IgD syndrome (MVK) ; Micropthalmia / Anopthalmia (VSX2) ; Mitochondrial complex I deficiency, ACAD9-related (ACAD9) ; Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4) ; Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5) ; Mitochondrial complex I deficiency, nuclear type 17 (NDUFAF6) ; Mitochondrial complex I deficiency, nuclear type 9 (NDUFS6) ; Mitochondrial complex IV deficiency, nuclear type 12 (PET100) ; Mitochondrial complex IV deficiency, nuclear type 2 (SCO2) ; Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC) ; Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP) ; Mitochondrial trifunctional protein deficiency, HADHB-related (HADHB) ; MKS1-related disorders (MKS1) ; Molybdenum cofactor deficiency of complementation group A (MOCS1) ; MPV17-related mitochondrial DNA (mtDNA) maintenance defect (MPV17) ; Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB) ; Mucolipidosis III gamma (GNPTG) ; Mucolipidosis, type IV (MCOLN1) ; Mucopolysaccharidosis, type I / Hurler syndrome (IDUA) ; Mucopolysaccharidosis, type II / Hunter syndrome (IDS) ; Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH) ; Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU) ; Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT) ; Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS) ; Mucopolysaccharidosis, type IVA / Morquio syndrome (GALNS) ; Mucopolysaccharidosis, type IX / Hyaluronidase deficiency (HYAL1) ; Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB) ; Mucopolysaccharidosis, type VII / Sly syndrome (GUSB) ; Mulibrey nanism (TRIM37) ; Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIA (ETFA) ; Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIB (ETFB) ; Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIC (ETFDH) ; Multiple pterygium syndrome, lethal type (CHRNG) ; Multiple sulfatase deficiency (SUMF1) ; Muscular dystrophy-dystroglycanopathy, type A, 1 (POMT1) ; Muscular dystrophy-dystroglycanopathy, type A, 2 (POMT2) ; Muscular dystrophy-dystroglycanopathy, type A, 3 (POMGNT1) ; Muscular dystrophy-dystroglycanopathy, type A, 6 (LARGE1) ; Muscular dystrophy-dystroglycanopathy, type A, 7 (CRPPA) ; Myopathy, lactic acidosis, and sideroblastic anemia (PUS1) ; Myotonia congenita (CLCN1) ; N-acetylglutamate synthase deficiency (NAGS) ; Nemaline myopathy 2 (NEB) ; Nephrogenic diabetes insipidus (AQP2) ; Nephronophthisis 2 (INVS) ; Neuronal ceroid lipofuscinosis, CLN3-related (CLN3) ; Neuronal ceroid lipofuscinosis, CLN5-related (CLN5) ; Neuronal ceroid lipofuscinosis, CLN6-related (CLN6) ; Neuronal ceroid lipofuscinosis, CLN8-related (CLN8) ; Neuronal ceroid lipofuscinosis, CTSD-related (CTSD) ; Neuronal ceroid lipofuscinosis, MFSD8-related (MFSD8) ; Neuronal ceroid lipofuscinosis, PPT1-related (PPT1) ; Neuronal ceroid lipofuscinosis, TPP1-related (TPP1) ; Niemann-Pick disease, type C1 (NPC1) ; Niemann-Pick disease, type C2 (NPC2) ; Niemann-Pick disease, types A/B (SMPD1) ; Nijmegen breakage syndrome (NBN) ; Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2) ; Nonsyndromic hearing loss and deafness (DFNB) 3 (MYO15A) ; Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1) ; NPHP1 nephronophthisis-related ciliopathies (NPHP1) ; NPHP3 nephronophthisis-related ciliopathies (NPHP3) ; NPHP4 nephronophthisis-related ciliopathies (NPHP4) ; Oculocutaneous albinism, type I (TYR) ; Oculocutaneous albinism, type II (OCA2) ; Odonto-onycho-dermal dysplasia / Schopf-Schulz-Passarge syndrome (WNT10A) ; Omenn syndrome (DCLRE1C) ; Ornithine aminotransferase deficiency (OAT) ; Ornithine transcarbamylase deficiency, X-linked (OTC) ; Ornithine translocase deficiency (SLC25A15) ; Orofaciodigital syndrome, type XIV (C2CD3) ; Osteopetrosis, infantile malignant, TCIRG1-related (TCIRG1) ; Pendred syndrome (SLC26A4) ; Perlman syndrome (DIS3L2) ; Peroxisomal acyl-CoA oxidase deficiency (ACOX1) ; Phenylalanine hydroxylase deficiency (PAH) ; Phosphoglycerate dehydrogenase deficiency (PHGDH) ; PLA2G6-associated neurodegeneration (PLA2G6) ; PLP1-related disorders (PLP1) ; POLG-related disorders (POLG) ; Pontocerebellar hypoplasia, type 1A (VRK1) ; Pontocerebellar hypoplasia, type 1B (EXOSC3) ; Pontocerebellar hypoplasia, type 2B (TSEN2) ; Pontocerebellar hypoplasia, type 2E (VPS53) ; Pontocerebellar hypoplasia, type 6 (RARS2) ; Pontocerebellar hypoplasia, types 4 and 2A (TSEN54) ; Primary ciliary dyskinesia, DNAH5-related (DNAH5) ; Primary ciliary dyskinesia, DNAI1-related (DNAI1) ; Primary ciliary dyskinesia, DNAI2-related (DNAI2) ; Primary congenital glaucoma (CYP1B1) ; Primary hyperoxaluria, type I (AGXT) ; Primary hyperoxaluria, type II (GRHPR) ; Primary hyperoxaluria, type III (HOGA1) ; Progressive cerebello-cerebral atrophy (SEPSECS) ; Progressive familial intrahepatic cholestasis 1 and benign recurrent intrahepatic cholestasis 1 (ATP8B1) ; Progressive familial intrahepatic cholestasis 4 (TJP2) ; Progressive familial intrahepatic cholestasis, type 2 (ABCB11) ; Prolidase deficiency (PEPD) ; Propionic acidemia, PCCA-related (PCCA) ; Propionic acidemia, PCCB-related (PCCB) ; PRPS1-related disorders (PRPS1) ; Pseudocholinesterase deficiency (BCHE) ; Pseudoxanthoma elasticum (ABCC6) ; Pycnodysostosis (CTSK) ; Pyridoxine-dependent epilepsy (ALDH7A1) ; Pyruvate carboxylase deficiency (PC) ; Pyruvate dehydrogenase E1-alpha deficiency (PDHA1) ; Pyruvate dehydrogenase E1-beta deficiency (PDHB) ; Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (TANGO2) ; Refsum disease (PHYH) ; Renal tubular acidosis (SLC4A4) ; Renal tubular acidosis and deafness, ATP6V1B1-related (ATP6V1B1) ; Retinitis pigmentosa 25 (EYS) ; Retinitis pigmentosa 26 (CERKL) ; Retinitis pigmentosa 28 (FAM161A) ; Retinitis pigmentosa 3 (RPGR) ; Retinitis pigmentosa 59 (DHDDS) ; Rhizomelic chondrodysplasia punctata, type 1 (PEX7) ; Rhizomelic chondrodysplasia punctata, type 2 (GNPAT) ; Rhizomelic chondrodysplasia punctata, type 3 (AGPS) ; Roberts-SC phocomelia syndrome (ESCO2) ; Sandhoff disease (HEXB) ; Schimke immunoosseous dysplasia (SMARCAL1) ; Schindler disease (NAGA) ; Senior-Loken syndrome 5 (IQCB1) ; Severe combined immunodeficiency, RAG1-related (RAG1) ; Severe combined immunodeficiency, RAG2-related (RAG2) ; Severe combined immunodeficiency, X-linked (IL2RG) ; Severe congenital neutropenia 5 (VPS45) ; Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1) ; Shwachman-Diamond syndrome (SBDS) ; Sialidosis (NEU1) ; Sjogren-Larsson syndrome (ALDH3A2) ; Skeletal dysplasias, SLC26A2-related (SLC26A2) ; Smith-Lemli-Opitz syndrome (DHCR7) ; Spastic ataxia, Charlevoix-Saguenay type (SACS) ; Spastic paraplegia, type 15 (ZFYVE26) ; Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SLC1A4) ; Spinal muscular atrophy (SMN1) ; Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2) ; Steel syndrome (COL27A1) ; Steroid resistant nephrotic syndrome, type 1 (NPHS1) ; Steroid-resistant nephrotic syndrome, type 2 (NPHS2) ; Steroid-resistant nephrotic syndrome, type 3 (PLCE1) ; Stuve-Wiedemann syndrome (LIFR) ; Surfactant dysfunction, ABCA3-related (ABCA3) ; Tay-Sachs disease (HEXA) ; TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2) ; TNXB-related classical-like Ehlers-Danlos syndrome (TNXB) ; Trichohepatoenteric syndrome 1 (TTC37) ; Trimethylaminuria (FMO3) ; Triple A syndrome (AAAS) ; Tyrosine hydroxylase deficiency (TH) ; Tyrosinemia, type I (FAH) ; Tyrosinemia, type II (TAT) ; Usher syndrome, type 1B (MYO7A) ; Usher syndrome, type 1C (USH1C) ; Usher syndrome, type 1D (CDH23) ; Usher syndrome, type 1F (PCDH15) ; Usher syndrome, type 1J (CIB2) ; Usher syndrome, type 2A (USH2A) ; Usher syndrome, type 2C (ADGRV1) ; Usher syndrome, type 3A (CLRN1) ; Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL) ; Vitamin D-dependent rickets, type 1A (CYP27B1) ; Werner syndrome (WRN) ; Wilson disease (ATP7B) ; Wiskott-Aldrich syndrome, X-linked (WAS) ; Wolcott-Rallison syndrome (EIF2AK3) ; WWOX deficiency (WWOX) ; Xeroderma pigmentosum, group A (XPA) ; Xeroderma pigmentosum, group C (XPC) ; X-linked agammaglobulinemia (BTK) ; X-linked chondrodysplasia punctata 1 (ARSL) ; X-linked congenital adrenal hypoplasia (NR0B1) ; X-linked developmental disorders, ARX-related (ARX) ; X-linked heterotaxy-1 (ZIC3) ; X-Linked Hyper IgM Syndrome (CD40LG) ; X-linked infantile spinal muscular atrophy (UBA1) ; X-linked myotubular myopathy (MTM1) ; X-linked Opitz G/BBB syndrome (MID1) ; Zellweger spectrum disorders, PEX10-related (PEX10) ; Zellweger spectrum disorders, PEX12-related (PEX12) ; Zellweger spectrum disorders, PEX1-related (PEX1) ; Zellweger spectrum disorders, PEX26-related (PEX26) ; Zellweger spectrum disorders, PEX2-related (PEX2) ; Zellweger spectrum disorders, PEX6-related (PEX6) Categories: Price: $2726 |
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QHerit™ 4 Diseases, Male
*Build Your Own Panel Eligible [?]
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$2138 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. The female panel that corresponds to this male panel is QHerit™ 6 Diseases, Female (Test Code 14011). Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor.This test analyzes genetic variants associated with 4 conditions. Conditions included in this panel: Alpha-thalassemia (HBA1/HBA2); Beta hemoglobinopathies including sickle cell anemia (HBB); Cystic fibrosis (CFTR); and Spinal muscular atrophy (SMN1). Categories: Price: $2138 |
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QHerit™ 559 Diseases, Male
*Build Your Own Panel Eligible [?]
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$2766 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. The female panel that corresponds to this male panel is QHerit™ 611 Diseases, Female (Test Code 14228). Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss with a Quest Genetic Counselor.This test analyzes genetic variants associated with 559 conditions in alignment with the American of Medical Genetics and Genomics (ACMG) Tier 4 recommendations [1,2]; this panel does not include X-linked genes. Conditions included in this panel: 17-beta-hydroxysteroid dehydrogenase deficiency, type III (HSD17B3); 3-beta-hydroxysteroid dehydrogenase deficiency, type II (HSD3B2); 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL); 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH); 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); 3-methylglutaconic aciduria, type III / Costeff syndrome (OPA3); 5-alpha-reductase deficiency (SRD5A2); 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS); ABCA4-related disorders (ABCA4); Abetalipoproteinemia (MTTP); Achromatopsia, CNGB3-related (CNGB3); Acrodermatitis enteropathica (SLC39A4); Action myoclonus renal failure syndrome (SCARB2); Acute infantile liver failure (TRMU); ADAMTSL4-related eye disorders (ADAMTSL4); Adenosine deaminase deficiency (ADA); Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6); Aicardi-Goutieres syndrome 2 (RNASEH2B); Aicardi-Goutieres syndrome 3 (RNASEH2C); Aicardi-Goutieres syndrome 4 (RNASEH2A); Aicardi-Goutieres syndrome 5 (SAMHD1); Alkaptonuria (HGD); Alpha-1 antitrypsin deficiency (SERPINA1); Alpha-mannosidosis (MAN2B1); Alpha-thalassemia (HBA1/HBA2); Alport syndrome, COL4A3-related (COL4A3); Alport syndrome, COL4A4-related (COL4A4); Alstrom syndrome (ALMS1); Amish infantile epilepsy syndrome (ST3GAL5); Arginine:glycine amidinotransferase deficiency (GATM); Argininemia (ARG1); Argininosuccinic aciduria (ASL); Aromatase deficiency (CYP19A1); Arthrogryposis, mental retardation, and seizures (SLC35A3); Asparagine synthetase deficiency (ASNS); Aspartylglycosaminuria (AGA); Ataxia with isolated vitamin E deficiency (TTPA); Ataxia-telangiectasia (ATM); Ataxia-telangiectasia-like disorder 1 (MRE11); Atransferrinemia (TF); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive congenital ichthyosis (TGM1); Autosomal recessive intellectual developmental disorder 3 (CC2D1A); Autosomal recessive polycystic kidney disease (PKHD1); Autosomal recessive primary microcephaly 1 (MCPH1); Autosomal recessive spinocerebellar ataxia, type 10 (ANO10); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 10 (BBS10); Bardet-Biedl syndrome 12 (BBS12); Bardet-Biedl syndrome 2 (BBS2); Bardet-Biedl syndrome 3 (ARL6); Bardet-Biedl syndrome 4 (BBS4); Bardet-Biedl syndrome 5 (BBS5); Bardet-Biedl syndrome 6 (MKKS); Bardet-Biedl syndrome 7 (BBS7); Bardet-Biedl syndrome 8 (TTC8); Bardet-Biedl syndrome 9 (BBS9); Bare lymphocyte syndrome, type II (CIITA); Bartter syndrome, type 1 (SLC12A1); Bartter syndrome, type 2 (KCNJ1); Bartter syndrome, type 4A (BSND); Bernard-Soulier syndrome, type A (GP1BA); Bernard-Soulier syndrome, type C (GP9); Beta hemoglobinopathies (HBB); Beta-ketothiolase deficiency (ACAT1); Beta-mannosidosis (MANBA); Beta-ureidopropionase deficiency (UPB1); Bilateral frontoparietal polymicrogyria (ADGRG1); Biotinidase deficiency (BTD); Biotin-thiamine-responsive basal ganglia disease (SLC19A3); Bloom syndrome (BLM); Brittle cornea syndrome 1 (ZNF469); Brittle cornea syndrome 2 (PRDM5); Canavan disease (ASPA); Carbamoyl phosphate synthetase I deficiency (CPS1); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase I deficiency (CPT1A); Carnitine palmitoyltransferase II deficiency (CPT2); Carnitine-acylcarnitine translocase deficiency (SLC25A20); Carpenter syndrome (RAB23); Cartilage-hair hypoplasia (RMRP); Catecholaminergic polymorphic ventricular tachycardia, type 2 (CASQ2); CD59-mediated hemolytic anemia (CD59); CEP152-related disorders (CEP152); Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma (CEDNIK) syndrome (SNAP29); Cerebrooculofacioskeletal syndrome 1 / Cockayne syndrome, type B (ERCC6); Cerebrotendinous xanthomatosis (CYP27A1); Charcot-Marie-Tooth disease, type 4D (NDRG1); Chediak-Higashi syndrome (LYST); Choreoacanthocytosis (VPS13A); Chronic granulomatous disease 2 (NCF2); Chronic granulomatous disease 4 (CYBA); Ciliopathies, RPGRIP1L-related (RPGRIP1L); Citrin deficiency / Citrullinemia, type II (SLC25A13); Citrullinemia, type I (ASS1); Cockayne syndrome, type A (ERCC8); Cohen syndrome (VPS13B); COL11A2-related disorders (COL11A2); Combined malonic and methylmalonic aciduria (ACSF3); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined methylmalonic aciduria and homocystinuria, cblD type / Cobalamin D deficiency (MMADHC); Combined or isolated pituitary hormone deficiency, type 1 (POU1F1); Combined oxidative phosphorylation deficiency 1 (GFM1); Combined oxidative phosphorylation deficiency 3 (TSFM);Combined pituitary hormone deficiency, type 2 (PROP1); Combined pituitary hormone deficiency, type 3 (LHX3); Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency (CYP11B1); Congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency (CYP17A1); Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2); Congenital adrenal insufficiency, CYP11A1-related (CYP11A1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of deglycosylation, type 1 (NGLY1); Congenital disorder of glycosylation, type Ia (PMM2); Congenital disorder of glycosylation, type Ib (MPI); Congenital disorder of glycosylation, type Ic (ALG6); Congenital disorder of glycosylation, type Ik (ALG1); Congenital dyserythropoietic anemia, type II (SEC23B); Congenital hydrocephalus 1 (CCDC88C); Congenital hypothyroidism, TSHB-related (TSHB); Congenital hypothyroidism, TSHR-related (TSHR); Congenital ichthyosis, ABCA12-related (ABCA12); Congenital insensitivity to pain with anhidrosis (NTRK1); Congenital myasthenic syndrome, CHAT-related (CHAT); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Congenital myasthenic syndrome, COLQ-related (COLQ); Congenital myasthenic syndrome, DOK7-related (DOK7); Congenital myasthenic syndrome, MUSK-related (MUSK); Congenital myasthenic syndrome, RAPSN-related (RAPSN); Congenital neutropenia, HAX1-related (HAX1); Congenital secretory chloride diarrhea 1 (SLC26A3); Corneal dystrophy and perceptive deafness syndrome (SLC4A11); Corticosterone methyloxidase deficiency (CYP11B2); CRB1-related retinal dystrophies (CRB1); CTSC-related disorders (CTSC); CYP7B1-related disorders (CYP7B1); Cystic fibrosis (CFTR); Cystinosis (CTNS); Cytochrome P450 oxidoreductase deficiency (POR); D-bifunctional protein deficiency (HSD17B4); Deoxyguanosine kinase deficiency / Mitochondrial DNA depletion syndrome 3 (DGUOK); Desbuquois dysplasia, type I (CANT1); Developmental and epileptic encephalopathy 50 (CAD); DGAT1 deficiency (DGAT1); Dihydrolipoamide dehydrogenase deficiency (DLD); Dihydropteridine reductase (DHPR) deficiency (QDPR); Dihydropyrimidine dehydrogenase deficiency (DPYD); Donnai-Barrow syndrome (LRP2); Dubin-Johnson syndrome (ABCC2); Dyskeratosis congenita spectrum disorders (TERT); Dyskeratosis congenita, RTEL1-related (RTEL1); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (TBCD); Ehlers-Danlos syndrome, dermatosparaxis type (ADAMTS2); Ellis-van Creveld syndrome (EVC); Ellis-van Creveld syndrome (EVC2); Enhanced S-cone syndrome (NR2E3); EPG5-related disorder (EPG5); ERCC2-related conditions (ERCC2); Ethylmalonic encephalopathy (ETHE1); Factor II deficiency / Prothrombin deficiency (F2); Factor V deficiency (F5); Factor XI deficiency / Hemophilia C (F11); Familial dysautonomia (ELP1); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Familial hemophagocytic lymphohistiocytosis 3 (UNC13D); Familial hemophagocytic lymphohistiocytosis 4 (STX11); Familial hemophagocytic lymphohistiocytosis 5 (STXBP2); Familial hypercholesterolemia, LDLRAP1-related (LDLRAP1); Familial hypercholesterolemia, LDLR-related (LDLR); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial hyperinsulinism, KCNJ11-related (KCNJ11); Familial Mediterranean fever (MEFV); Fanconi anemia, complementation group A (FANCA); Fanconi anemia, complementation group C (FANCC); Fanconi anemia, complementation group D2 (FANCD2); Fanconi anemia, complementation group E (FANCE); Fanconi anemia, complementation group F (FANCF); Fanconi anemia, complementation group G (FANCG); Fanconi anemia, complementation group I (FANCI); Fanconi anemia, complementation group J (BRIP1); Fanconi anemia, complementation group L (FANCL); Farber lipogranulomatosis (ASAH1); Foveal hypoplasia 2 (SLC38A8); Fraser syndrome, type 1 (FRAS1); Fraser syndrome, type 2 (FREM2); Fraser syndrome, type 3 (GRIP1); Free sialic acid storage disorders (SLC17A5); Friedreich ataxia (FXN); Fructose-1,6-bisphosphatase deficiency (FBP1); Fucosidosis (FUCA1); Fukuyama congenital muscular dystrophy (FKTN); Fumarase deficiency (FH); G6PC3 deficiency (G6PC3); GABA-transaminase deficiency (ABAT); Galactosemia (GALT); Galactosemia, type II / Galactokinase deficiency (GALK1); Galactosemia, type III / Galactose epimerase deficiency (GALE); Galactosialidosis (CTSA); Gaucher disease (GBA); GCH1-related disorders (GCH1); GDF5-related disorders (GDF5); Geroderma osteodysplastica (GORAB); Gitelman syndrome (SLC12A3); GLB1-related disorders (GLB1); Glutaric acidemia, type I (GCDH);Glutathione synthetase deficiency (GSS); Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC); Glycine encephalopathy, AMT-related (AMT); Glycogen storage disease, type Ia (G6PC1); Glycogen storage disease, type Ib / IIw (SLC37A4); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); Glycogen storage disease, type IXb (PHKB); Glycogen storage disease, type IXc (PHKG2); Glycogen storage disease, type V (PYGM); Glycogen storage disease, type VII (PFKM); GNE myopathy (GNE); GRACILE syndrome (BCS1L); Guanidinoacetate methyltransferase deficiency (GAMT); Heme oxygenase 1 deficiency (HMOX1); Hereditary fructose intolerance (ALDOB); Hereditary hemochromatosis, type 2A (HJV); Hereditary hemochromatosis, type 2B (HAMP); Hereditary hemochromatosis, type 3 (TFR2); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 2 (AP3B1); Hermansky-Pudlak syndrome, type 3 (HPS3); Hermansky-Pudlak syndrome, type 4 (HPS4); Hermansky-Pudlak syndrome, type 5 (HPS5); Hermansky-Pudlak syndrome, type 6 (HPS6); Hermansky-Pudlak syndrome, type 8 (BLOC1S3); Hermansky-Pudlak syndrome, type 9 (BLOC1S6); Holocarboxylase synthetase deficiency (HLCS); Homocystinuria caused by methylenetetrahydrofolate reductase (MTHFR) deficiency (MTHFR); Homocystinuria, CBS-related (CBS); Homocystinuria, type cblE (MTRR); Homocystinuria-megaloblastic anemia, cblG complementation type (MTR); Hydrolethalus syndrome (HYLS1); Hyper-IgM syndrome, type 3 (CD40); Hyperphosphatemic familial tumoral calcinosis (GALNT3); Hypomyelinating leukodystrophy 12 (VPS11); Hypophosphatasia (ALPL); Ichthyosis prematurity syndrome (SLC27A4); IGHMBP2-related disorders (IGHMBP2); Imerslund-Gräsbeck syndrome 2 (AMN); Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (DNMT3B); Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ZBTB24); Infantile cerebral and cerebellar atrophy (MED17); Isolated sulfite oxidase deficiency (SUOX); Isovaleric acidemia (IVD); ITGB3-related disorders (ITGB3); Johanson-Blizzard syndrome (UBR1); Joubert syndrome 1 (INPP5E); Joubert syndrome 15 (CEP41); Joubert syndrome 17 (CPLANE1); Joubert syndrome 2 (TMEM216); Joubert syndrome 21 (CSPP1); Joubert syndrome 25 (CEP104); Joubert syndrome 27 (B9D1); Joubert syndrome 3 (AHI1); Joubert syndrome 31 (CEP120); Joubert syndrome 34 (B9D2); Joubert syndrome 8 (ARL13B); Joubert syndrome 9 (CC2D2A); Junctional epidermolysis bullosa, COL17A1-related (COL17A1); Junctional epidermolysis bullosa, ITGA6-related (ITGA6); Junctional epidermolysis bullosa, ITGB4-related (ITGB4); Junctional epidermolysis bullosa, LAMA3-related (LAMA3); Junctional epidermolysis bullosa, LAMB3-related (LAMB3); Junctional epidermolysis bullosa, LAMC2-related (LAMC2); Krabbe disease (GALC); LAMA2 muscular dystrophy (LAMA2); Laron syndrome (GHR); Leber congenital amaurosis 1 (GUCY2D); Leber congenital amaurosis 13 (RDH12); Leber congenital amaurosis 2 (RPE65); Leber congenital amaurosis 4 (AIPL1); Leber congenital amaurosis 5 (LCA5); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Lethal congenital contracture syndrome 1 (GLE1); Leukoencephalopathy with vanishing white matter (EIF2B5); Leukoencephalopathy with vanishing white matter 1 (EIF2B1); Leukoencephalopathy with vanishing white matter 2 (EIF2B2); Leukoencephalopathy with vanishing white matter 3 (EIF2B3); Leukoencephalopathy with vanishing white matter 4 (EIF2B4); LIG4 syndrome (LIG4); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 2B (DYSF); Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP); Limb-girdle muscular dystrophy, type 3 (SGCA); Limb-girdle muscular dystrophy, type 4 (SGCB); Limb-girdle muscular dystrophy, type 5 (SGCG); Limb-girdle muscular dystrophy, type 6 (SGCD); Lipoid congenital adrenal hyperplasia (STAR); Lipoprotein lipase deficiency (LPL); Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA); LRAT-related disorders (LRAT); Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) (NSMCE3); Lysinuric protein intolerance (SLC7A7); Lysosomal acid lipase deficiency (LIPA); Malonyl-CoA decarboxylase deficiency (MLYCD); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Maple syrup urine disease, type 2 (DBT); MECR-related neurologic disorder (MECR);Medium chain acyl-CoA dehydrogenase deficiency (ACADM); MEDNIK syndrome (AP1S1); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Metachromatic leukodystrophy due to saposin B deficiency (PSAP); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria and homocystinuria, cblF type (LMBRD1); Methylmalonic aciduria, MMAA-related (MMAA); Methylmalonic aciduria, MMAB-related (MMAB); Methylmalonic aciduria, MMUT-related (MMUT); Methylmalonyl-CoA epimerase deficiency (MCEE); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Microcephalic osteodysplastic primordial dwarfism, type II (PCNT); Microphthalmia / Anophthalmia (VSX2); Mitochondrial complex I deficiency, ACAD9-related (ACAD9); Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4); Mitochondrial complex I deficiency, nuclear type 10 (NDUFAF2); Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5); Mitochondrial complex I deficiency, nuclear type 17 (NDUFAF6); Mitochondrial complex I deficiency, nuclear type 19 (FOXRED1); Mitochondrial complex I deficiency, nuclear type 3 (NDUFS7); Mitochondrial complex I deficiency, nuclear type 4 (NDUFV1); Mitochondrial complex I deficiency, nuclear type 9 (NDUFS6); Mitochondrial complex IV deficiency, nuclear type 12 (PET100); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC); Mitochondrial complex IV deficiency, nuclear type 6 (COX15); Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP); Mitochondrial trifunctional protein deficiency, HADHB-related (HADHB); MKS1-related disorders (MKS1); Molybdenum cofactor deficiency of complementation group A (MOCS1); Molybdenum cofactor deficiency of complementation group B (MOCS2); MPV17-related mitochondrial DNA (mtDNA) maintenance defect (MPV17); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis III gamma (GNPTG); Mucolipidosis IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU); Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT); Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS); Mucopolysaccharidosis, type IVA / Morquio syndrome (GALNS); Mucopolysaccharidosis, type IX / Hyaluronidase deficiency (HYAL1); Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB); Mucopolysaccharidosis, type VII / Sly syndrome (GUSB); Mulibrey nanism (TRIM37); Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIA (ETFA); Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIB (ETFB); Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIC (ETFDH); Multiple pterygium syndrome, lethal type (CHRNG); Multiple sulfatase deficiency (SUMF1); Muscular dystrophy-dystroglycanopathy, type A, 1 (POMT1); Muscular dystrophy-dystroglycanopathy, type A, 10 (RXYLT1); Muscular dystrophy-dystroglycanopathy, type A, 2 (POMT2); Muscular dystrophy-dystroglycanopathy, type A, 3 (POMGNT1); Muscular dystrophy-dystroglycanopathy, type A, 6 (LARGE1); Muscular dystrophy-dystroglycanopathy, type A, 7 (CRPPA); Myopathy, lactic acidosis, and sideroblastic anemia (PUS1); Myotonia congenita (CLCN1); N-acetylglutamate synthase deficiency (NAGS); Nemaline myopathy 2 (NEB); Nephrogenic diabetes insipidus type 2 (AQP2); Nephronophthisis 2 (INVS); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN6-related (CLN6); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, CTSD-related (CTSD); Neuronal ceroid lipofuscinosis, MFSD8-related (MFSD8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, type C1 (NPC1); Niemann-Pick disease, type C2 (NPC2); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Nonsyndromic hearing loss and deafness (DFNB) 22 (OTOA); Nonsyndromic hearing loss and deafness (DFNB) 3 (MYO15A); Nonsyndromic hearing loss and deafness (DFNB) 59 (PJVK); Nonsyndromic hearing loss and deafness (DFNB) 7 (TMC1); Nonsyndromic hearing loss and deafness (DFNB) 76 (SYNE4); Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1); Nonsyndromic hearing loss and deafness (DFNB) 8 (TMPRSS3); Nonsyndromic hearing loss and deafness (DFNB) 9 (OTOF); Normophosphatemic familial tumoral calcinosis (SAMD9); NPHP1 nephronophthisis-related ciliopathies (NPHP1); NPHP3 nephronophthisis-related ciliopathies (NPHP3); NPHP4 nephronophthisis-related ciliopathies (NPHP4); Oculocutaneous albinism, type I (TYR); Oculocutaneous albinism, type II (OCA2); Oculocutaneous albinism, type III (TYRP1); Oculocutaneous albinism, type IV (SLC45A2); Odonto-onycho-dermal dysplasia / Schopf-Schulz-Passarge syndrome (WNT10A); Omenn syndrome (DCLRE1C); Ornithine aminotransferase deficiency (OAT); Ornithine translocase deficiency (SLC25A15); Orofaciodigital syndrome, type XIV (C2CD3); Osteogenesis imperfecta, type VII (CRTAP); Osteogenesis imperfecta, type VIII (P3H1); Osteogenesis imperfecta, type XI (FKBP10); Osteogenesis imperfecta, type XIII (BMP1); Osteopetrosis, infantile malignant, TCIRG1-related (TCIRG1);Osteopetrosis, OSTM1-related (OSTM1); Pantothenate kinase-associated neurodegeneration (PKAN) (PANK2); Parkinson disease 15 (FBXO7); Pendred syndrome (SLC26A4); Perlman syndrome (DIS3L2); Peroxisomal acyl-CoA oxidase deficiency (ACOX1); PGM3-congenital disorder of glycosylation / Immunodeficiency 23 (PGM3); Phenylalanine hydroxylase deficiency (PAH); Phosphoglycerate dehydrogenase deficiency (PHGDH); PIGN-related disorders (PIGN); PLA2G6-associated neurodegeneration (PLA2G6); PLEKHG5-related disorders (PLEKHG5); PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (PLOD1); POLG-related disorders (POLG); Pontocerebellar hypoplasia, type 1A (VRK1); Pontocerebellar hypoplasia, type 1B (EXOSC3); Pontocerebellar hypoplasia, type 2B (TSEN2); Pontocerebellar hypoplasia, type 2E (VPS53); Pontocerebellar hypoplasia, type 6 (RARS2); Pontocerebellar hypoplasia, types 4 and 2A (TSEN54); Primary ciliary dyskinesia, CCDC103-related (CCDC103); Primary ciliary dyskinesia, CCDC39-related (CCDC39); Primary ciliary dyskinesia, DNAH11-related (DNAH11); Primary ciliary dyskinesia, DNAH5-related (DNAH5); Primary ciliary dyskinesia, DNAI1-related (DNAI1); Primary ciliary dyskinesia, DNAI2-related (DNAI2); Primary congenital glaucoma (CYP1B1); Primary hyperoxaluria, type I (AGXT); Primary hyperoxaluria, type II (GRHPR); Primary hyperoxaluria, type III (HOGA1); Progressive cerebello-cerebral atrophy (SEPSECS); Progressive familial intrahepatic cholestasis 1 and benign recurrent intrahepatic cholestasis 1 (ATP8B1); Progressive familial intrahepatic cholestasis 2 (ABCB11); Progressive familial intrahepatic cholestasis 3 (ABCB4); Progressive familial intrahepatic cholestasis 4 (TJP2); Progressive pseudorheumatoid dysplasia (CCN6); Prolidase deficiency (PEPD); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Pseudocholinesterase deficiency (BCHE); Pseudoxanthoma elasticum (ABCC6); Pterin-4 alpha-carbinolamine dehydratase (PCD) deficiency (PCBD1); Pycnodysostosis (CTSK); Pyridoxamine 5'-phosphate oxidase deficiency (PNPO); Pyridoxine-dependent epilepsy (ALDH7A1); Pyruvate carboxylase deficiency (PC); Pyruvate dehydrogenase E1-beta deficiency (PDHB); Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (TANGO2); Refsum disease (PHYH); Renal tubular acidosis (SLC4A4); Renal tubular acidosis and deafness, ATP6V1B1-related (ATP6V1B1); Retinitis pigmentosa 25 (EYS); Retinitis pigmentosa 26 (CERKL); Retinitis pigmentosa 28 (FAM161A); Retinitis pigmentosa 36 (PRCD); Retinitis pigmentosa 59 (DHDDS); Retinitis pigmentosa 62 (MAK); Rhizomelic chondrodysplasia punctata, type 1 (PEX7); Rhizomelic chondrodysplasia punctata, type 2 (GNPAT); Rhizomelic chondrodysplasia punctata, type 3 (AGPS); RLBP1-related retinopathies (RLBP1); Roberts-SC phocomelia syndrome (ESCO2); RYR1-related disorders (RYR1); Sandhoff disease (HEXB); Schimke immunoosseous dysplasia (SMARCAL1); Schindler disease (NAGA); Senior-Loken syndrome 5 (IQCB1); Sepiapterin reductase deficiency (SPR); Severe combined immunodeficiency, CD3D-related (CD3D); Severe combined immunodeficiency, CD3E-related (CD3E); Severe combined immunodeficiency, FOXN1-related (FOXN1); Severe combined immunodeficiency, IKBKB-related (IKBKB); Severe combined immunodeficiency, IL7R-related (IL7R); Severe combined immunodeficiency, JAK3-related (JAK3); Severe combined immunodeficiency, PTPRC-related (PTPRC); Severe combined immunodeficiency, RAG1-related (RAG1); Severe combined immunodeficiency, RAG2-related (RAG2); Severe congenital neutropenia 5 (VPS45); Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1); Shwachman-Diamond syndrome (SBDS); Sialidosis (NEU1); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasia, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spastic ataxia, Charlevoix-Saguenay type (SACS); Spastic paraplegia, type 15 (ZFYVE26); Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SLC1A4); SPG11-related disorders (SPG11); Spinal muscular atrophy (SMN1); Spondylocostal dysostosis 1 (DLL3); Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2); Steel syndrome (COL27A1); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Steroid-resistant nephrotic syndrome, type 2 (NPHS2); Steroid-resistant nephrotic syndrome, type 3 (PLCE1); Stuve-Wiedemann syndrome (LIFR); SURF1-related disorders (SURF1); Surfactant dysfunction, ABCA3-related (ABCA3); Tay-Sachs disease (HEXA); TBCE-related disorders (TBCE); TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2);Thiamine-responsive megaloblastic anemia syndrome (SLC19A2); Thyroid dyshormonogenesis 1 (SLC5A5); Thyroid dyshormonogenesis 2A (TPO); Thyroid dyshormonogenesis 3 (TG); Thyroid dyshormonogenesis 6 (DUOX2); TK2-related mitochondrial disorders (TK2); TMEM67-related disorders (TMEM67); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Transcobalamin II deficiency (TCN2); TREX1-related disorders (TREX1); Trichohepatoenteric syndrome 1 (TTC37); Trichohepatoenteric syndrome 2 (SKIC2); TRIM32-related disorders (TRIM32); Trimethylaminuria (FMO3); Triple A syndrome (AAAS); TULP1-related disorders (TULP1); Tyrosine hydroxylase deficiency (TH); Tyrosinemia, type I (FAH); Tyrosinemia, type II (TAT); Tyrosinemia, type III (HPD); Usher syndrome, type 1B (MYO7A); Usher syndrome, type 1C (USH1C); Usher syndrome, type 1D (CDH23); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 1J (CIB2); Usher syndrome, type 2A (USH2A); Usher syndrome, type 2C (ADGRV1); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Vitamin D-dependent rickets, type 1A (CYP27B1); Vitamin D-resistant rickets, type 2A (VDR); VLDLR-associated cerebellar hypoplasia (VLDLR); Warsaw breakage syndrome (DDX11); Werner syndrome (WRN); Wilson disease (ATP7B); Wolcott-Rallison syndrome (EIF2AK3); Woodhouse-Sakati syndrome (DCAF17); WWOX deficiency (WWOX); Xeroderma pigmentosum, group A (XPA); Xeroderma pigmentosum, group C (XPC); Xeroderma pigmentosum, variant type (XP-V) (POLH); Zellweger spectrum disorders, PEX10-related (PEX10); Zellweger spectrum disorders, PEX12-related (PEX12); Zellweger spectrum disorders, PEX13-related (PEX13); Zellweger spectrum disorders, PEX16-related (PEX16); Zellweger spectrum disorders, PEX1-related (PEX1); Zellweger spectrum disorders, PEX26-related (PEX26); Zellweger spectrum disorders, PEX2-related (PEX2); Zellweger spectrum disorders, PEX5-related (PEX5); Zellweger spectrum disorders, PEX6-related (PEX6)1 - Guha S, Reddi HV, Aarabi M, et al. Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2024;26(7):101137. PMID 388143272 - American College of Medical Genetics (ACMG). Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetic Med. 2021;23(10):1793-1806. PMID 34285390 Categories: Price: $2766 |
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QHerit™ 611 Diseases, Female
*Build Your Own Panel Eligible [?]
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$2766 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified X-linked and autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. The male panel that corresponds to this female panel is QHerit™ 559 Diseases, Male (Test Code 14229). Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss with a Quest Genetic Counselor.This test analyzes genetic variants associated with 611 conditions in alignment with the American of Medical Genetics and Genomics (ACMG) Tier 4 recommendations [1,2]. Conditions included in this panel: 17-beta-hydroxysteroid dehydrogenase deficiency, type III (HSD17B3); 3-beta-hydroxysteroid dehydrogenase deficiency, type II (HSD3B2); 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCL); 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH); 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); 3-methylglutaconic aciduria, type III / Costeff syndrome (OPA3); 5-alpha-reductase deficiency (SRD5A2); 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS); ABCA4-related disorders (ABCA4); Abetalipoproteinemia (MTTP); Achromatopsia, CNGB3-related (CNGB3); Acrodermatitis enteropathica (SLC39A4); Action myoclonus renal failure syndrome (SCARB2); Acute infantile liver failure (TRMU); ADAMTSL4-related eye disorders (ADAMTSL4); Adenosine deaminase deficiency (ADA); Adrenoleukodystrophy, X-linked (ABCD1); Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6); Aicardi-Goutieres syndrome 2 (RNASEH2B); Aicardi-Goutieres syndrome 3 (RNASEH2C); Aicardi-Goutieres syndrome 4 (RNASEH2A); Aicardi-Goutieres syndrome 5 (SAMHD1); Alkaptonuria (HGD); Alpha-1 antitrypsin deficiency (SERPINA1); Alpha-mannosidosis (MAN2B1); Alpha-thalassemia (HBA1/HBA2); Alpha-thalassemia intellectual disability syndrome, X-linked (ATRX); Alport syndrome, COL4A3-related (COL4A3); Alport syndrome, COL4A4-related (COL4A4); Alport syndrome, COL4A5-related, X-linked (COL4A5); Alstrom syndrome (ALMS1); Amish infantile epilepsy syndrome (ST3GAL5); Androgen insensitivity syndrome (AR); Arginine:glycine amidinotransferase deficiency (GATM); Argininemia (ARG1); Argininosuccinic aciduria (ASL); Aromatase deficiency (CYP19A1); Arthrogryposis, mental retardation, and seizures (SLC35A3); Asparagine synthetase deficiency (ASNS); Aspartylglycosaminuria (AGA); Ataxia with isolated vitamin E deficiency (TTPA); Ataxia-telangiectasia (ATM); Ataxia-telangiectasia-like disorder 1 (MRE11); Atransferrinemia (TF); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive congenital ichthyosis (TGM1); Autosomal recessive intellectual developmental disorder 3 (CC2D1A); Autosomal recessive polycystic kidney disease (PKHD1); Autosomal recessive primary microcephaly 1 (MCPH1); Autosomal recessive spinocerebellar ataxia, type 10 (ANO10); AVPR2-related disorders (AVPR2); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 10 (BBS10); Bardet-Biedl syndrome 12 (BBS12); Bardet-Biedl syndrome 2 (BBS2); Bardet-Biedl syndrome 3 (ARL6); Bardet-Biedl syndrome 4 (BBS4); Bardet-Biedl syndrome 5 (BBS5); Bardet-Biedl syndrome 6 (MKKS); Bardet-Biedl syndrome 7 (BBS7); Bardet-Biedl syndrome 8 (TTC8); Bardet-Biedl syndrome 9 (BBS9); Bare lymphocyte syndrome, type II (CIITA); Barth syndrome (TAFAZZIN (formerly TAZ)); Bartter syndrome, type 1 (SLC12A1); Bartter syndrome, type 2 (KCNJ1); Bartter syndrome, type 4A (BSND); Bernard-Soulier syndrome, type A (GP1BA); Bernard-Soulier syndrome, type C (GP9); Beta hemoglobinopathies (HBB); Beta-ketothiolase deficiency (ACAT1); Beta-mannosidosis (MANBA); Beta-ureidopropionase deficiency (UPB1); Bilateral frontoparietal polymicrogyria (ADGRG1); Biotinidase deficiency (BTD); Biotin-thiamine-responsive basal ganglia disease (SLC19A3); Bloom syndrome (BLM); Brittle cornea syndrome 1 (ZNF469); Brittle cornea syndrome 2 (PRDM5); Canavan disease (ASPA); Carbamoyl phosphate synthetase I deficiency (CPS1); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase I deficiency (CPT1A); Carnitine palmitoyltransferase II deficiency (CPT2); Carnitine-acylcarnitine translocase deficiency (SLC25A20); Carpenter syndrome (RAB23); Cartilage-hair hypoplasia (RMRP); Catecholaminergic polymorphic ventricular tachycardia, type 2 (CASQ2); CD59-mediated hemolytic anemia (CD59); CEP152-related disorders (CEP152); Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma (CEDNIK) syndrome (SNAP29); Cerebrooculofacioskeletal syndrome 1 / Cockayne syndrome, type B (ERCC6); Cerebrotendinous xanthomatosis (CYP27A1); Charcot-Marie-Tooth disease, type 1X (GJB1); Charcot-Marie-Tooth disease, type 4D (NDRG1); Chediak-Higashi syndrome (LYST); Choreoacanthocytosis (VPS13A); Choroideremia, X-linked (CHM); Chronic granulomatous disease 2 (NCF2); Chronic granulomatous disease 4 (CYBA); Chronic granulomatous disease, X-linked (CYBB); Ciliopathies, RPGRIP1L-related (RPGRIP1L); Citrin deficiency / Citrullinemia, type II (SLC25A13); Citrullinemia, type I (ASS1); Cockayne syndrome, type A (ERCC8); Cohen syndrome (VPS13B); COL11A2-related disorders (COL11A2); Combined malonic and methylmalonic aciduria (ACSF3); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined methylmalonic aciduria and homocystinuria, cblD type / Cobalamin D deficiency (MMADHC); Combined or isolated pituitary hormone deficiency, type 1 (POU1F1); Combined oxidative phosphorylation deficiency 1 (GFM1); Combined oxidative phosphorylation deficiency 3 (TSFM); Combined oxidative phosphorylation deficiency 6 (AIFM1); Combined pituitary hormone deficiency, type 2 (PROP1); Combined pituitary hormone deficiency, type 3 (LHX3); Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency (CYP11B1); Congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency (CYP17A1); Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2); Congenital adrenal insufficiency, CYP11A1-related (CYP11A1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of deglycosylation, type 1 (NGLY1); Congenital disorder of glycosylation, type Ia (PMM2); Congenital disorder of glycosylation, type Ib (MPI); Congenital disorder of glycosylation, type Ic (ALG6); Congenital disorder of glycosylation, type Ik (ALG1); Congenital dyserythropoietic anemia, type II (SEC23B); Congenital hydrocephalus 1 (CCDC88C); Congenital hypothyroidism, TSHB-related (TSHB); Congenital hypothyroidism, TSHR-related (TSHR); Congenital ichthyosis, ABCA12-related (ABCA12); Congenital insensitivity to pain with anhidrosis (NTRK1); Congenital myasthenic syndrome, CHAT-related (CHAT); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Congenital myasthenic syndrome, COLQ-related (COLQ); Congenital myasthenic syndrome, DOK7-related (DOK7); Congenital myasthenic syndrome, MUSK-related (MUSK); Congenital myasthenic syndrome, RAPSN-related (RAPSN); Congenital neutropenia, HAX1-related (HAX1); Congenital secretory chloride diarrhea 1 (SLC26A3); Corneal dystrophy and perceptive deafness syndrome (SLC4A11); Corticosterone methyloxidase deficiency (CYP11B2); CRB1-related retinal dystrophies (CRB1); Creatine transporter defect, SLC6A8-related, X-linked / Cerebral creatine deficiency syndrome (SLC6A8); CTSC-related disorders (CTSC); CYP7B1-related disorders (CYP7B1); Cystic fibrosis (CFTR); Cystinosis (CTNS); Cytochrome P450 oxidoreductase deficiency (POR); D-bifunctional protein deficiency (HSD17B4); DCX-related disorders (DCX); Dent disease 1 (CLCN5); Deoxyguanosine kinase deficiency / Mitochondrial DNA depletion syndrome 3 (DGUOK); Desbuquois dysplasia, type I (CANT1); Developmental and epileptic encephalopathy 36 (ALG13); Developmental and epileptic encephalopathy 50 (CAD); DGAT1 deficiency (DGAT1); Dihydrolipoamide dehydrogenase deficiency (DLD); Dihydropteridine reductase (DHPR) deficiency (QDPR); Dihydropyrimidine dehydrogenase deficiency (DPYD); Donnai-Barrow syndrome (LRP2); Dubin-Johnson syndrome (ABCC2); Duchenne/Becker muscular dystrophy, X-linked (DMD); Dyskeratosis congenita spectrum disorders (TERT); Dyskeratosis congenita, RTEL1-related (RTEL1); Dyskeratosis congenita, X-linked (DKC1); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum (TBCD); Ehlers-Danlos syndrome, dermatosparaxis type (ADAMTS2); Ellis-van Creveld syndrome (EVC); Ellis-van Creveld syndrome (EVC2); Emery-Dreifuss muscular dystrophy, X-linked (EMD); Enhanced S-cone syndrome (NR2E3); EPG5-related disorder (EPG5); ERCC2-related conditions (ERCC2); Ethylmalonic encephalopathy (ETHE1); Fabry disease, X-linked (GLA); Factor II deficiency / Prothrombin deficiency (F2); Factor IX deficiency / Hemophilia B (F9); Factor V deficiency (F5); Factor XI deficiency / Hemophilia C (F11); Factory VIII deficiency / Hemophilia A (F8); Familial dysautonomia (ELP1); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Familial hemophagocytic lymphohistiocytosis 3 (UNC13D); Familial hemophagocytic lymphohistiocytosis 4 (STX11); Familial hemophagocytic lymphohistiocytosis 5 (STXBP2); Familial hypercholesterolemia, LDLRAP1-related (LDLRAP1); Familial hypercholesterolemia, LDLR-related (LDLR); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial hyperinsulinism, KCNJ11-related (KCNJ11); Familial Mediterranean fever (MEFV); Fanconi anemia, complementation group A (FANCA); Fanconi anemia, complementation group B (FANCB); Fanconi anemia, complementation group C (FANCC); Fanconi anemia, complementation group D2 (FANCD2); Fanconi anemia, complementation group E (FANCE); Fanconi anemia, complementation group F (FANCF); Fanconi anemia, complementation group G (FANCG); Fanconi anemia, complementation group I (FANCI); Fanconi anemia, complementation group J (BRIP1); Fanconi anemia, complementation group L (FANCL); Farber lipogranulomatosis (ASAH1); FHL1-related disorders (FHL1); Foveal hypoplasia 2 (SLC38A8); Fragile X syndrome (FMR1); Fragile XE syndrome (AFF2); Fraser syndrome, type 1 (FRAS1); Fraser syndrome, type 2 (FREM2); Fraser syndrome, type 3 (GRIP1); Free sialic acid storage disorders (SLC17A5); Friedreich ataxia (FXN); Fructose-1,6-bisphosphatase deficiency (FBP1); Fucosidosis (FUCA1); Fukuyama congenital muscular dystrophy (FKTN); Fumarase deficiency (FH); G6PC3 deficiency (G6PC3); GABA-transaminase deficiency (ABAT); Galactosemia (GALT); Galactosemia, type II / Galactokinase deficiency (GALK1); Galactosemia, type III / Galactose epimerase deficiency (GALE); Galactosialidosis (CTSA); Gaucher disease (GBA); GCH1-related disorders (GCH1); GDF5-related disorders (GDF5); Geroderma osteodysplastica (GORAB); Gitelman syndrome (SLC12A3); GLB1-related disorders (GLB1); Glucose-6-phosphate dehydrogenase deficiency (G6PD); Glutaric acidemia, type I (GCDH); Glutathione synthetase deficiency (GSS); Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC); Glycine encephalopathy, AMT-related (AMT); Glycogen storage disease, type Ia (G6PC1); Glycogen storage disease, type Ib / IIw (SLC37A4); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); Glycogen storage disease, type IXb (PHKB); Glycogen storage disease, type IXc (PHKG2); Glycogen storage disease, type V (PYGM); Glycogen storage disease, type VII (PFKM); GNE myopathy (GNE); GRACILE syndrome (BCS1L); Guanidinoacetate methyltransferase deficiency (GAMT); Heme oxygenase 1 deficiency (HMOX1); Hereditary fructose intolerance (ALDOB); Hereditary hemochromatosis, type 2A (HJV); Hereditary hemochromatosis, type 2B (HAMP); Hereditary hemochromatosis, type 3 (TFR2); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 2 (AP3B1); Hermansky-Pudlak syndrome, type 3 (HPS3); Hermansky-Pudlak syndrome, type 4 (HPS4); Hermansky-Pudlak syndrome, type 5 (HPS5); Hermansky-Pudlak syndrome, type 6 (HPS6); Hermansky-Pudlak syndrome, type 8 (BLOC1S3); Hermansky-Pudlak syndrome, type 9 (BLOC1S6); Holocarboxylase synthetase deficiency (HLCS); Homocystinuria caused by methylenetetrahydrofolate reductase (MTHFR) deficiency (MTHFR); Homocystinuria, CBS-related (CBS); Homocystinuria, type cblE (MTRR); Homocystinuria-megaloblastic anemia, cblG complementation type (MTR); HPRT1-related disorders (HPRT1); HSD10 disease (HSD17B10); Hydrolethalus syndrome (HYLS1); Hyper-IgM syndrome, type 3 (CD40); Hyperphosphatemic familial tumoral calcinosis (GALNT3); Hypohidrotic ectodermal dysplasia, X-linked (EDA); Hypomyelinating leukodystrophy 12 (VPS11); Hypophosphatasia (ALPL); Ichthyosis prematurity syndrome (SLC27A4); IGHMBP2-related disorders (IGHMBP2); Imerslund-Gräsbeck syndrome 2 (AMN); Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (DNMT3B); Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ZBTB24); Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (FOXP3); Infantile cerebral and cerebellar atrophy (MED17); Isolated sulfite oxidase deficiency (SUOX); Isovaleric acidemia (IVD); ITGB3-related disorders (ITGB3); Johanson-Blizzard syndrome (UBR1); Joubert syndrome 1 (INPP5E); Joubert syndrome 15 (CEP41); Joubert syndrome 17 (CPLANE1); Joubert syndrome 2 (TMEM216); Joubert syndrome 21 (CSPP1); Joubert syndrome 25 (CEP104); Joubert syndrome 27 (B9D1); Joubert syndrome 3 (AHI1); Joubert syndrome 31 (CEP120); Joubert syndrome 34 (B9D2); Joubert syndrome 8 (ARL13B); Joubert syndrome 9 (CC2D2A); Junctional epidermolysis bullosa, COL17A1-related (COL17A1); Junctional epidermolysis bullosa, ITGA6-related (ITGA6); Junctional epidermolysis bullosa, ITGB4-related (ITGB4); Junctional epidermolysis bullosa, LAMA3-related (LAMA3); Junctional epidermolysis bullosa, LAMB3-related (LAMB3); Junctional epidermolysis bullosa, LAMC2-related (LAMC2); Juvenile retinoschisis, X-linked (RS1); Krabbe disease (GALC); L1 syndrome (L1CAM); LAMA2 muscular dystrophy (LAMA2); Laron syndrome (GHR); Leber congenital amaurosis 1 (GUCY2D); Leber congenital amaurosis 13 (RDH12); Leber congenital amaurosis 2 (RPE65); Leber congenital amaurosis 4 (AIPL1); Leber congenital amaurosis 5 (LCA5); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Lethal congenital contracture syndrome 1 (GLE1); Leukoencephalopathy with vanishing white matter (EIF2B5); Leukoencephalopathy with vanishing white matter 1 (EIF2B1); Leukoencephalopathy with vanishing white matter 2 (EIF2B2); Leukoencephalopathy with vanishing white matter 3 (EIF2B3); Leukoencephalopathy with vanishing white matter 4 (EIF2B4); LIG4 syndrome (LIG4); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 2B (DYSF); Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP); Limb-girdle muscular dystrophy, type 3 (SGCA); Limb-girdle muscular dystrophy, type 4 (SGCB); Limb-girdle muscular dystrophy, type 5 (SGCG); Limb-girdle muscular dystrophy, type 6 (SGCD); Lipoid congenital adrenal hyperplasia (STAR); Lipoprotein lipase deficiency (LPL); Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA); Lowe syndrome, X-linked (OCRL); LRAT-related disorders (LRAT); Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) (NSMCE3); Lysinuric protein intolerance (SLC7A7); Lysosomal acid lipase deficiency (LIPA); Malonyl-CoA decarboxylase deficiency (MLYCD); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Maple syrup urine disease, type 2 (DBT); MECR-related neurologic disorder (MECR); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); MEDNIK syndrome (AP1S1); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Menkes disease (ATP7A); Metachromatic leukodystrophy due to saposin B deficiency (PSAP); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria and homocystinuria, cblF type (LMBRD1); Methylmalonic aciduria and homocystinuria, cblX type (HCFC1); Methylmalonic aciduria, MMAA-related (MMAA); Methylmalonic aciduria, MMAB-related (MMAB); Methylmalonic aciduria, MMUT-related (MMUT); Methylmalonyl-CoA epimerase deficiency (MCEE); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Microcephalic osteodysplastic primordial dwarfism, type II (PCNT); Microphthalmia / Anophthalmia (VSX2); Mitochondrial complex I deficiency, ACAD9-related (ACAD9); Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4); Mitochondrial complex I deficiency, nuclear type 10 (NDUFAF2); Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5); Mitochondrial complex I deficiency, nuclear type 17 (NDUFAF6); Mitochondrial complex I deficiency, nuclear type 19 (FOXRED1); Mitochondrial complex I deficiency, nuclear type 3 (NDUFS7); Mitochondrial complex I deficiency, nuclear type 4 (NDUFV1); Mitochondrial complex I deficiency, nuclear type 9 (NDUFS6); Mitochondrial complex IV deficiency, nuclear type 12 (PET100); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC); Mitochondrial complex IV deficiency, nuclear type 6 (COX15); Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP); Mitochondrial trifunctional protein deficiency, HADHB-related (HADHB); MKS1-related disorders (MKS1); Molybdenum cofactor deficiency of complementation group A (MOCS1); Molybdenum cofactor deficiency of complementation group B (MOCS2); MPV17-related mitochondrial DNA (mtDNA) maintenance defect (MPV17); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis III gamma (GNPTG); Mucolipidosis IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type II / Hunter syndrome (IDS); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU); Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT); Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS); Mucopolysaccharidosis, type IVA / Morquio syndrome (GALNS); Mucopolysaccharidosis, type IX / Hyaluronidase deficiency (HYAL1); Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB); Mucopolysaccharidosis, type VII / Sly syndrome (GUSB); Mulibrey nanism (TRIM37); Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIA (ETFA); Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIB (ETFB); Multiple acyl-CoA dehydrogenase deficiency / Glutaric aciduria, type IIC (ETFDH); Multiple pterygium syndrome, lethal type (CHRNG); Multiple sulfatase deficiency (SUMF1); Muscular dystrophy-dystroglycanopathy, type A, 1 (POMT1); Muscular dystrophy-dystroglycanopathy, type A, 10 (RXYLT1); Muscular dystrophy-dystroglycanopathy, type A, 2 (POMT2); Muscular dystrophy-dystroglycanopathy, type A, 3 (POMGNT1); Muscular dystrophy-dystroglycanopathy, type A, 6 (LARGE1); Muscular dystrophy-dystroglycanopathy, type A, 7 (CRPPA); Myopathy, lactic acidosis, and sideroblastic anemia (PUS1); Myotonia congenita (CLCN1); N-acetylglutamate synthase deficiency (NAGS); Nemaline myopathy 2 (NEB); Nephrogenic diabetes insipidus type 2 (AQP2); Nephronophthisis 2 (INVS); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN6-related (CLN6); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, CTSD-related (CTSD); Neuronal ceroid lipofuscinosis, MFSD8-related (MFSD8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, type C1 (NPC1); Niemann-Pick disease, type C2 (NPC2); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Nonsyndromic hearing loss and deafness (DFNB) 22 (OTOA); Nonsyndromic hearing loss and deafness (DFNB) 3 (MYO15A); Nonsyndromic hearing loss and deafness (DFNB) 59 (PJVK); Nonsyndromic hearing loss and deafness (DFNB) 7 (TMC1); Nonsyndromic hearing loss and deafness (DFNB) 76 (SYNE4); Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1); Nonsyndromic hearing loss and deafness (DFNB) 8 (TMPRSS3); Nonsyndromic hearing loss and deafness (DFNB) 9 (OTOF); Normophosphatemic familial tumoral calcinosis (SAMD9); NPHP1 nephronophthisis-related ciliopathies (NPHP1); NPHP3 nephronophthisis-related ciliopathies (NPHP3); NPHP4 nephronophthisis-related ciliopathies (NPHP4); Oculocutaneous albinism, type I (TYR); Oculocutaneous albinism, type II (OCA2); Oculocutaneous albinism, type III (TYRP1); Oculocutaneous albinism, type IV (SLC45A2); Odonto-onycho-dermal dysplasia / Schopf-Schulz-Passarge syndrome (WNT10A); Omenn syndrome (DCLRE1C); Ornithine aminotransferase deficiency (OAT); Ornithine transcarbamylase deficiency, X-linked (OTC); Ornithine translocase deficiency (SLC25A15); Orofaciodigital syndrome, type XIV (C2CD3); Osteogenesis imperfecta, type VII (CRTAP); Osteogenesis imperfecta, type VIII (P3H1); Osteogenesis imperfecta, type XI (FKBP10); Osteogenesis imperfecta, type XIII (BMP1); Osteopetrosis, infantile malignant, TCIRG1-related (TCIRG1); Osteopetrosis, OSTM1-related (OSTM1); Pantothenate kinase-associated neurodegeneration (PKAN) (PANK2); Parkinson disease 15 (FBXO7); Pendred syndrome (SLC26A4); Perlman syndrome (DIS3L2); Peroxisomal acyl-CoA oxidase deficiency (ACOX1); PGM3-congenital disorder of glycosylation / Immunodeficiency 23 (PGM3); Phenylalanine hydroxylase deficiency (PAH); Phosphoglycerate dehydrogenase deficiency (PHGDH); PIGN-related disorders (PIGN); PLA2G6-associated neurodegeneration (PLA2G6); PLEKHG5-related disorders (PLEKHG5); PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (PLOD1); PLP1-related disorders (PLP1); POLG-related disorders (POLG); Pontocerebellar hypoplasia, type 1A (VRK1); Pontocerebellar hypoplasia, type 1B (EXOSC3); Pontocerebellar hypoplasia, type 2B (TSEN2); Pontocerebellar hypoplasia, type 2E (VPS53); Pontocerebellar hypoplasia, type 6 (RARS2); Pontocerebellar hypoplasia, types 4 and 2A (TSEN54); Primary ciliary dyskinesia, CCDC103-related (CCDC103); Primary ciliary dyskinesia, CCDC39-related (CCDC39); Primary ciliary dyskinesia, DNAH11-related (DNAH11); Primary ciliary dyskinesia, DNAH5-related (DNAH5); Primary ciliary dyskinesia, DNAI1-related (DNAI1); Primary ciliary dyskinesia, DNAI2-related (DNAI2); Primary congenital glaucoma (CYP1B1); Primary hyperoxaluria, type I (AGXT); Primary hyperoxaluria, type II (GRHPR); Primary hyperoxaluria, type III (HOGA1); Progressive cerebello-cerebral atrophy (SEPSECS); Progressive familial intrahepatic cholestasis 1 and benign recurrent intrahepatic cholestasis 1 (ATP8B1); Progressive familial intrahepatic cholestasis 2 (ABCB11); Progressive familial intrahepatic cholestasis 3 (ABCB4); Progressive familial intrahepatic cholestasis 4 (TJP2); Progressive pseudorheumatoid dysplasia (CCN6); Prolidase deficiency (PEPD); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); PRPS1-related disorders (PRPS1); Pseudocholinesterase deficiency (BCHE); Pseudoxanthoma elasticum (ABCC6); Pterin-4 alpha-carbinolamine dehydratase (PCD) deficiency (PCBD1); Pycnodysostosis (CTSK); Pyridoxamine 5'-phosphate oxidase deficiency (PNPO); Pyridoxine-dependent epilepsy (ALDH7A1); Pyruvate carboxylase deficiency (PC); Pyruvate dehydrogenase E1-alpha deficiency (PDHA1); Pyruvate dehydrogenase E1-beta deficiency (PDHB); Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (TANGO2); Refsum disease (PHYH); Renal tubular acidosis (SLC4A4); Renal tubular acidosis and deafness, ATP6V1B1-related (ATP6V1B1); Retinitis pigmentosa 2 (RP2); Retinitis pigmentosa 25 (EYS); Retinitis pigmentosa 26 (CERKL); Retinitis pigmentosa 28 (FAM161A); Retinitis pigmentosa 3 (RPGR); Retinitis pigmentosa 36 (PRCD); Retinitis pigmentosa 59 (DHDDS); Retinitis pigmentosa 62 (MAK); Rhizomelic chondrodysplasia punctata, type 1 (PEX7); Rhizomelic chondrodysplasia punctata, type 2 (GNPAT); Rhizomelic chondrodysplasia punctata, type 3 (AGPS); RLBP1-related retinopathies (RLBP1); Roberts-SC phocomelia syndrome (ESCO2); RYR1-related disorders (RYR1); Sandhoff disease (HEXB); Schimke immunoosseous dysplasia (SMARCAL1); Schindler disease (NAGA); Senior-Loken syndrome 5 (IQCB1); Sepiapterin reductase deficiency (SPR); Severe combined immunodeficiency, CD3D-related (CD3D); Severe combined immunodeficiency, CD3E-related (CD3E); Severe combined immunodeficiency, FOXN1-related (FOXN1); Severe combined immunodeficiency, IKBKB-related (IKBKB); Severe combined immunodeficiency, IL7R-related (IL7R); Severe combined immunodeficiency, JAK3-related (JAK3); Severe combined immunodeficiency, PTPRC-related (PTPRC); Severe combined immunodeficiency, RAG1-related (RAG1); Severe combined immunodeficiency, RAG2-related (RAG2); Severe combined immunodeficiency, X-linked (IL2RG); Severe congenital neutropenia 5 (VPS45); Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1); Shwachman-Diamond syndrome (SBDS); Sialidosis (NEU1); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasia, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spastic ataxia, Charlevoix-Saguenay type (SACS); Spastic paraplegia, type 15 (ZFYVE26); Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SLC1A4); SPG11-related disorders (SPG11); Spinal muscular atrophy (SMN1); Spondylocostal dysostosis 1 (DLL3); Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2); Steel syndrome (COL27A1); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Steroid-resistant nephrotic syndrome, type 2 (NPHS2); Steroid-resistant nephrotic syndrome, type 3 (PLCE1); Stuve-Wiedemann syndrome (LIFR); SURF1-related disorders (SURF1); Surfactant dysfunction, ABCA3-related (ABCA3); Tay-Sachs disease (HEXA); TBCE-related disorders (TBCE); TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2); Thiamine-responsive megaloblastic anemia syndrome (SLC19A2); Thyroid dyshormonogenesis 1 (SLC5A5); Thyroid dyshormonogenesis 2A (TPO); Thyroid dyshormonogenesis 3 (TG); Thyroid dyshormonogenesis 6 (DUOX2); TK2-related mitochondrial disorders (TK2); TMEM67-related disorders (TMEM67); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Transcobalamin II deficiency (TCN2); TREX1-related disorders (TREX1); Trichohepatoenteric syndrome 1 (TTC37); Trichohepatoenteric syndrome 2 (SKIC2); TRIM32-related disorders (TRIM32); Trimethylaminuria (FMO3); Triple A syndrome (AAAS); TULP1-related disorders (TULP1); Tyrosine hydroxylase deficiency (TH); Tyrosinemia, type I (FAH); Tyrosinemia, type II (TAT); Tyrosinemia, type III (HPD); Usher syndrome, type 1B (MYO7A); Usher syndrome, type 1C (USH1C); Usher syndrome, type 1D (CDH23); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 1J (CIB2); Usher syndrome, type 2A (USH2A); Usher syndrome, type 2C (ADGRV1); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Vitamin D-dependent rickets, type 1A (CYP27B1); Vitamin D-resistant rickets, type 2A (VDR); VLDLR-associated cerebellar hypoplasia (VLDLR); Warsaw breakage syndrome (DDX11); Werner syndrome (WRN); Wilson disease (ATP7B); Wiskott-Aldrich syndrome, X-linked (WAS); Wolcott-Rallison syndrome (EIF2AK3); Woodhouse-Sakati syndrome (DCAF17); WWOX deficiency (WWOX); Xeroderma pigmentosum, group A (XPA); Xeroderma pigmentosum, group C (XPC); Xeroderma pigmentosum, variant type (XP-V) (POLH); X-linked agammaglobulinemia (BTK); X-linked chondrodysplasia punctata 1 (ARSL); X-linked congenital adrenal hypoplasia (NR0B1); X-linked developmental disorders, ARX-related (ARX); X-linked heterotaxy-1 (ZIC3); X-Linked hyper IgM syndrome (CD40LG); X-linked infantile spinal muscular atrophy (UBA1); X-linked myotubular myopathy (MTM1); X-linked Opitz G/BBB syndrome (MID1); Zellweger spectrum disorders, PEX10-related (PEX10); Zellweger spectrum disorders, PEX12-related (PEX12); Zellweger spectrum disorders, PEX13-related (PEX13); Zellweger spectrum disorders, PEX16-related (PEX16); Zellweger spectrum disorders, PEX1-related (PEX1); Zellweger spectrum disorders, PEX26-related (PEX26); Zellweger spectrum disorders, PEX2-related (PEX2); Zellweger spectrum disorders, PEX5-related (PEX5); Zellweger spectrum disorders, PEX6-related (PEX6)1 - Guha S, Reddi HV, Aarabi M, et al. Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2024;26(7):101137. PMID 388143272 - American College of Medical Genetics (ACMG). Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetic Med. 2021;23(10):1793-1806. PMID 34285390 Categories: Price: $2766 |
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QHerit™ 6 Diseases, Female
*Build Your Own Panel Eligible [?]
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$2146 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified X-linked and autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. The male panel that corresponds to this female panel is QHerit™ 4 Diseases, Male (Test Code 14010). Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss the case with a Quest Genetic Counselor. This test analyzes genetic variants associated with 6 conditions. Conditions included in this panel: Alpha-thalassemia (HBA1/HBA2); Beta hemoglobinopathies including sickle cell anemia (HBB); Cystic fibrosis (CFTR); Duchenne/Becker muscular dystrophy (DMD); Fragile X syndrome (FMR1); and Spinal muscular atrophy (SMN1). Categories: Price: $2146 |
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QHerit™ 96 Diseases, Male
*Build Your Own Panel Eligible [?]
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$2524 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. The female panel that corresponds to this male panel is QHerit™ 112 Diseases, Female (Test Code 14232). Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss with a Quest Genetic Counselor.This test analyzes genetic variants associated with 96 conditions in alignment with the American of Medical Genetics and Genomics (ACMG) Tier 3 recommendations [1,2]; this panel does not include X-linked genes. Conditions included in this panel: 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); Achromatopsia, CNGB3-related (CNGB3); Aicardi-Goutieres syndrome 2 (RNASEH2B); Alpha-thalassemia (HBA1/HBA2); Argininosuccinic aciduria (ASL); Aspartylglycosaminuria (AGA); Atransferrinemia (TF); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive polycystic kidney disease (PKHD1); Autosomal recessive primary microcephaly 1 (MCPH1); Autosomal recessive spinocerebellar ataxia, type 10 (ANO10); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Beta-ketothiolase deficiency (ACAT1); Biotinidase deficiency (BTD); Biotin-thiamine-responsive basal ganglia disease (SLC19A3); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine palmitoyltransferase II deficiency (CPT2); Cerebrotendinous xanthomatosis (CYP27A1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (CYP21A2); Congenital adrenal insufficiency, CYP11A1-related (CYP11A1); Congenital disorder of glycosylation, type Ia (PMM2); Congenital hydrocephalus 1 (CCDC88C); Congenital myasthenic syndrome, CHRNE-related (CHRNE); Cystic fibrosis (CFTR); Dihydrolipoamide dehydrogenase deficiency (DLD); Donnai-Barrow syndrome (LRP2); Dystrophic epidermolysis bullosa, COL7A1-related (COL7A1); Ellis-van Creveld syndrome (EVC2); ERCC2-related conditions (ERCC2); Familial dysautonomia (ELP1); Familial hemophagocytic lymphohistiocytosis 2 (PRF1); Familial hyperinsulinism, ABCC8-related (ABCC8); Fanconi anemia, complementation group C (FANCC); Fraser syndrome, type 3 (GRIP1); Friedreich ataxia (FXN); Fukuyama congenital muscular dystrophy (FKTN); Galactosemia (GALT); Gaucher disease (GBA); Glycogen storage disease, type Ia (G6PC1); Glycogen storage disease, type Ib / IIw (SLC37A4); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Homocystinuria, CBS-related (CBS); Hypophosphatasia (ALPL); Joubert syndrome 2 (TMEM216); Joubert syndrome 3 (AHI1); Joubert syndrome 9 (CC2D2A); Leber congenital amaurosis, CEP290-related / CEP290-related conditions (CEP290); Limb-girdle muscular dystrophy, type 2I / Muscular dystrophy-dystroglycanopathy, type A, 5 (FKRP); Maple syrup urine disease, type 1B (BCKDHB); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Megalencephalic leukoencephalopathy with subcortical cysts (MLC1); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria, MMUT-related (MMUT); Mevalonic aciduria / Hyper-IgD syndrome (MVK); Mitochondrial complex IV deficiency, nuclear type 2 (SCO2); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Myotonia congenita (CLCN1); Nemaline myopathy 2 (NEB); Niemann-Pick disease, types A/B (SMPD1); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Oculocutaneous albinism, type I (TYR); Oculocutaneous albinism, type II (OCA2); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); POLG-related disorders (POLG); Pontocerebellar hypoplasia, type 6 (RARS2); Primary hyperoxaluria, type I (AGXT); Retinitis pigmentosa 59 (DHDDS); Schindler disease (NAGA); Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1); Skeletal dysplasia, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spinal muscular atrophy (SMN1); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Surfactant dysfunction, ABCA3-related (ABCA3); Tay-Sachs disease (HEXA); TNXB-related classical-like Ehlers-Danlos syndrome (TNXB); Trimethylaminuria (FMO3); Tyrosinemia, type I (FAH); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Vitamin D-dependent rickets, type 1A (CYP27B1); Wilson disease (ATP7B); Xeroderma pigmentosum, group C (XPC)1 - Guha S, Reddi HV, Aarabi M, et al. Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2024;26(7):101137. PMID 388143272 - American College of Medical Genetics (ACMG). Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetic Med. 2021;23(10):1793-1806. PMID 34285390 Categories: Price: $2524 |
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QHerit™ Expanded Carrier Screen
*Build Your Own Panel Eligible [?]
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$2183 | |
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Description: The expanded carrier screen offers hotspot molecular detection of variants for one X-linked and multiple autosomal recessive disorders at the same time and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor. The expanded carrier screening panel (QHerit), analyzes 24 genes associated with 22 diseases, including: Alpha Thalassemia, Beta-Hemoglobinopathies (Including Sickle Cell Disease), Bloom Syndrome, Canavan Disease, Cystic Fibrosis (CFvantage), Dihydrolipoamide Dehydrogenase Deficiency, Familial Dysautonomia, Familial Hyperinsulinism, Fanconi Anemia Type C, Fragile X Syndrome, Gaucher Disease, Glycogen Storage Disease Type IA, Joubert Syndrome 2, Maple Syrup Urine Disease, Mucolipidosis Type IV, Nemaline Myopathy, Niemann-Pick Disease Type A, Spinal Muscular Atrophy, Tay-Sachs Disease, Usher Syndrome Type IF, Usher Syndrome Type IIIA, and Walker-Warburg Syndrome. Categories: Price: $2183 |
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QHerit™ Extended, Female
*Build Your Own Panel Eligible [?]
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$2549 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified X-linked and autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor. This test analyzes genetic variants associated with 150 conditions including the 84 conditions included in QHerit™ Plus carrier screen. Conditions included in this panel include: 3-hydroxy-3-methylglutaryl-coA lyase deficiency (HMGCL); 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS); Abetalipoproteinemia (MTTP); Adenosine deaminase deficiency (ADA); Adrenoleukodystrophy, X-linked (ABCD1); Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6); Alpha-mannosidosis (MAN2B1); Alpha-thalassemia (HBA1/HBA2); Alport syndrome, COL4A3-related (COL4A3); Alport syndrome, COL4A4-related (COL4A4); Alport syndrome, COL4A5-related, X-linked (COL4A5); Argininosuccinic aciduria (ASL); Arthrogryposis, mental retardation, and seizures (SLC35A3); Aspartylglycosaminuria (AGA); Ataxia-telangiectasia (ATM); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive congenital ichthyosis 1 (TGM1); Autosomal recessive polycystic kidney disease (PKHD1); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 10 (BBS10); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Beta-ketothiolase deficiency (ACAT1); Biotinidase deficiency (BTD); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase II deficiency (CPT2); Cartilage-hair hypoplasia (RMRP); CEP290-related conditions (CEP290); Cerebrotendinous xanthomatosis (CYP27A1); Citrullinemia, type I (ASS1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined pituitary hormone deficiency, type 2 (PROP1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of glycosylation, type Ia (PMM2); Cystic fibrosis (CFTR); Cystinosis (CTNS); D-bifunctional protein deficiency (HSD17B4); Dihydrolipoamide dehydrogenase deficiency (DLD); Dyskeratosis congenita, RTEL1-related (RTEL1); Factor XI deficiency / Hemophilia C (F11); Familial dysautonomia (ELP1); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial hyperinsulinism, KCNJ11-related (KCNJ11); Familial Mediterranean fever (MEFV); Fanconi anemia, Group A (FANCA); Fanconi anemia, Group C (FANCC); Fragile X syndrome (FMR1); Fukuyama congenital muscular dystrophy (Walker-Warburg) (FKTN); Galactosemia (GALT); Gaucher disease (GBA); GLB1-related disorders (GLB1); Glutaric acidemia, type I (GCDH); Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC); Glycine encephalopathy, AMT-related (AMT); Glycogen storage disease, type Ia (G6PC); Glycogen storage disease, type Ib / IIw (SLC37A4); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); GNE myopathy (GNE); GRACILE syndrome (BCS1L); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Holocarboxylase synthetase deficiency (HLCS); Homocystinuria, CBS-related (CBS); Hydrolethalus syndrome (HYLS1); Hypophosphatasia (ALPL); Infantile cerebral and cerebellar atrophy (MED17); Isovaleric acidemia (IVD); Joubert syndrome 2 (TMEM216); Junctional epidermolysis bullosa, LAMA3-related (LAMA3); Junctional epidermolysis bullosa, LAMB3-related (LAMB3); Junctional epidermolysis bullosa, LAMC2-related (LAMC2); Krabbe disease (GALC); LAMA2 muscular dystrophy (LAMA2); Lethal congenital contracture syndrome 1 (GLE1); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 3 (SGCA); Limb-girdle muscular dystrophy, type 4 (SGCB); Long chain 3-hydroxyacyl-coa dehydrogenase deficiency (HADHA); Lysinuric protein intolerance (SLC7A7); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Maple syrup urine disease, type 2 (DBT); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Menkes disease (ATP7A); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria, MMAA-related (MMAA); Methylmalonic aciduria, MMAB-related (MMAB); Methylmalonic aciduria, MUT-related (MMUT); Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis, type IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type II / Hunter syndrome (IDS); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU); Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT); Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS); Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB); Nemaline myopathy 2 (NEB); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN6-related (CLN6); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, type C1 (NPC1); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1); Ornithine transcarbamylase deficiency, X-linked (OTC); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); Primary hyperoxaluria, type I (AGXT); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Pyruvate carboxylase deficiency (PC); Retinitis pigmentosa 59 (DHDDS); Rhizomelic chondrodysplasia punctata, type 1 (PEX7); Sandhoff disease (HEXB); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasias, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spastic ataxia, Charlevoix-Saguenay type (SACS); Spinal muscular atrophy (SMN1); Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Steroid-resistant nephrotic syndrome, type 2 (NPHS2); Tay-Sachs disease (HEXA); Tyrosine hydroxylase deficiency (TH); Tyrosinemia, type I (FAH); Tyrosinemia, type II (TAT); Usher syndrome, type 1B (MYO7A); Usher syndrome, type 1C (USH1C); Usher syndrome, type 1D (CDH23); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Wilson disease (ATP7B); Zellweger spectrum disorders, PEX1-related (PEX1); Zellweger spectrum disorders, PEX2-related (PEX2); Zellweger spectrum disorders, PEX6-related (PEX6) Categories: Price: $2549 |
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QHerit™ Extended, Male
*Build Your Own Panel Eligible [?]
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$2549 | |
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Description: This test offers offers molecular detection by next-generation sequencing (NGS) detection of variants for specified autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor.This test analyzes genetic variants associated with 144 conditions including the 78 autosomal recessive conditions included in QHerit™ Plus carrier screen. Conditions included in this panel include: 3-hydroxy-3-methylglutaryl-coA lyase deficiency (HMGCL); 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1); 3-methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2); 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS); Abetalipoproteinemia (MTTP); Adenosine deaminase deficiency (ADA); Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6); Alpha-mannosidosis (MAN2B1); Alpha-thalassemia (HBA1/HBA2); Alport syndrome, COL4A3-related (COL4A3); Alport syndrome, COL4A4-related (COL4A4); Argininosuccinic aciduria (ASL); Arthrogryposis, mental retardation, and seizures (SLC35A3); Aspartylglycosaminuria (AGA); Ataxia-telangiectasia (ATM); Autoimmune polyglandular syndrome, type 1 (AIRE); Autosomal recessive congenital ichthyosis 1 (TGM1); Autosomal recessive polycystic kidney disease (PKHD1); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 10 (BBS10); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Beta-ketothiolase deficiency (ACAT1); Biotinidase deficiency (BTD); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase II deficiency (CPT2); Cartilage-hair hypoplasia (RMRP); CEP290-related conditions (CEP290); Cerebrotendinous xanthomatosis (CYP27A1); Citrullinemia, type I (ASS1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined pituitary hormone deficiency, type 2 (PROP1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of glycosylation, type Ia (PMM2); Cystic fibrosis (CFTR); Cystinosis (CTNS); D-bifunctional protein deficiency (HSD17B4); Dihydrolipoamide dehydrogenase deficiency (DLD); Dyskeratosis congenita, RTEL1-related (RTEL1); Factor XI deficiency / Hemophilia C (F11); Familial dysautonomia (ELP1); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial hyperinsulinism, KCNJ11-related (KCNJ11); Familial Mediterranean fever (MEFV); Fanconi anemia, Group A (FANCA); Fanconi anemia, Group C (FANCC); Fukuyama congenital muscular dystrophy (Walker-Warburg) (FKTN); Galactosemia (GALT); Gaucher disease (GBA); GLB1-related disorders (GLB1); Glutaric acidemia, type I (GCDH); Glycine encephalopathy / Nonketotic hyperglycinemia (GLDC); Glycine encephalopathy, AMT-related (AMT); Glycogen storage disease, type Ia (G6PC); Glycogen storage disease, type Ib / IIw (SLC37A4); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); GNE myopathy (GNE); GRACILE syndrome (BCS1L); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Holocarboxylase synthetase deficiency (HLCS); Homocystinuria, CBS-related (CBS); Hydrolethalus syndrome (HYLS1); Hypophosphatasia (ALPL); Infantile cerebral and cerebellar atrophy (MED17); Isovaleric acidemia (IVD); Joubert syndrome 2 (TMEM216); Junctional epidermolysis bullosa, LAMA3-related (LAMA3); Junctional epidermolysis bullosa, LAMB3-related (LAMB3); Junctional epidermolysis bullosa, LAMC2-related (LAMC2); Krabbe disease (GALC); LAMA2 muscular dystrophy (LAMA2); Lethal congenital contracture syndrome 1 (GLE1); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 3 (SGCA); Limb-girdle muscular dystrophy, type 4 (SGCB); Long chain 3-hydroxyacyl-coa dehydrogenase deficiency (HADHA); Lysinuric protein intolerance (SLC7A7); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Maple syrup urine disease, type 2 (DBT); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Metachromatic leukodystrophy, ARSA-related (ARSA); Methylmalonic aciduria, MMAA-related (MMAA); Methylmalonic aciduria, MMAB-related (MMAB); Methylmalonic aciduria, MUT-related (MMUT); Mitochondrial complex IV deficiency, nuclear type 5 / Leigh syndrome, French-Canadian type (LRPPRC); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis, type IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Mucopolysaccharidosis, type IIIB / Sanfilippo syndrome B (NAGLU); Mucopolysaccharidosis, type IIIC / Sanfilippo syndrome C (HGSNAT); Mucopolysaccharidosis, type IIID / Sanfilippo syndrome D (GNS); Mucopolysaccharidosis, type VI / Maroteaux-Lamy syndrome (ARSB); Nemaline myopathy 2 (NEB); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN6-related (CLN6); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, type C1 (NPC1); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Nonsyndromic hearing loss and deafness (DFNB) 77 (LOXHD1); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); Primary hyperoxaluria, type I (AGXT); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Pyruvate carboxylase deficiency (PC); Retinitis pigmentosa 59 (DHDDS); Rhizomelic chondrodysplasia punctata, type 1 (PEX7); Sandhoff disease (HEXB); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasias, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spastic ataxia, Charlevoix-Saguenay type (SACS); Spinal muscular atrophy (SMN1); Spondylothoracic dysostosis and spondylocostal dysostosis 2 (MESP2); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Steroid-resistant nephrotic syndrome, type 2 (NPHS2); Tay-Sachs disease (HEXA); Tyrosine hydroxylase deficiency (TH); Tyrosinemia, type I (FAH); Tyrosinemia, type II (TAT); Usher syndrome, type 1B (MYO7A); Usher syndrome, type 1C (USH1C); Usher syndrome, type 1D (CDH23); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Wilson disease (ATP7B); Zellweger spectrum disorders, PEX1-related (PEX1); Zellweger spectrum disorders, PEX2-related (PEX2); Zellweger spectrum disorders, PEX6-related (PEX6) Categories: Price: $2549 |
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QHerit™ Plus, Female
*Build Your Own Panel Eligible [?]
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$2508 | |
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Description: This test offers molecular detection by next-generation sequencing (NGS) of variants for specified X-linked and autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor.This test analyzes genetic variants associated with 84 conditions including all 22 conditions contained in QHerit™. Conditions included in this panel: Abetalipoproteinemia (MTTP); Adrenoleukodystrophy, X-linked (ABCD1); Alpha-thalassemia (HBA1/HBA2); Argininosuccinic aciduria (ASL); Ataxia-telangiectasia (ATM); Autosomal recessive polycystic kidney disease (PKHD1); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Biotinidase deficiency (BTD); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase II deficiency (CPT2); Cerebrotendinous xanthomatosis (CYP27A1); Citrullinemia, type I (ASS1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined pituitary hormone deficiency, type 2 (PROP1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of glycosylation, type Ia (PMM2); Cystic fibrosis (CFTR); Cystinosis (CTNS); D-bifunctional protein deficiency (HSD17B4); Dihydrolipoamide dehydrogenase deficiency (DLD); Factor XI deficiency / Hemophilia C (F11); Familial dysautonomia (ELP1); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial Mediterranean fever (MEFV); Fanconi anemia, complementation group C (FANCC); Fragile X syndrome (FMR1); Fukuyama congenital muscular dystrophy (Walker-Warburg) (FKTN); Galactosemia (GALT); Gaucher disease (GBA); Glutaric acidemia, type I (GCDH); Glycogen storage disease, type Ia (G6PC); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); GRACILE syndrome (BCS1L); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Hypophosphatasia (ALPL); Joubert syndrome 2 (TMEM216); Krabbe disease (GALC); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 3 (SGCA); Long chain 3-hydroxyacyl-coa dehydrogenase deficiency (HADHA); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Metachromatic leukodystrophy, ARSA-related (ARSA); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis, type IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Nemaline myopathy 2 (NEB); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Ornithine transcarbamylase deficiency, X-linked (OTC); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); Primary hyperoxaluria, type I (AGXT); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasias, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spinal muscular atrophy (SMN1); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Tay-Sachs disease (HEXA); Tyrosinemia, type I (FAH); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Wilson disease (ATP7B); Zellweger spectrum disorders, PEX2-related (PEX2) Categories: Price: $2508 |
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QHerit™ Plus, Male
*Build Your Own Panel Eligible [?]
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$2508 | |
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Description: This test offers molecular detection by next generation sequencing (NGS) of variants for specified autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child to facilitate informed reproductive decision-making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor.This test analyzes genetic variants associated with 81 conditions including 21 autosomal recessive conditions contained in QHerit™. Conditions included in this panel: Abetalipoproteinemia (MTTP); Alpha-thalassemia (HBA1/HBA2); Argininosuccinic aciduria (ASL); Ataxia-telangiectasia (ATM); Autosomal recessive polycystic kidney disease (PKHD1); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Biotinidase deficiency (BTD); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase II deficiency (CPT2); Cerebrotendinous xanthomatosis (CYP27A1); Citrullinemia, type I (ASS1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined pituitary hormone deficiency, type 2 (PROP1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of glycosylation, type Ia (PMM2); Cystic fibrosis (CFTR); Cystinosis (CTNS); D-bifunctional protein deficiency (HSD17B4); Dihydrolipoamide dehydrogenase deficiency (DLD); Factor XI deficiency / Hemophilia C (F11); Familial dysautonomia (ELP1); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial Mediterranean fever (MEFV); Fanconi anemia, complementation group C (FANCC); Fukuyama congenital muscular dystrophy (Walker-Warburg) (FKTN); Galactosemia (GALT); Gaucher disease (GBA); Glutaric acidemia, type I (GCDH); Glycogen storage disease, type Ia (G6PC); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); GRACILE syndrome (BCS1L); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Hypophosphatasia (ALPL); Joubert syndrome 2 (TMEM216); Krabbe disease (GALC); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 3 (SGCA); Long chain 3-hydroxyacyl-coa dehydrogenase deficiency (HADHA); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Metachromatic leukodystrophy, ARSA-related (ARSA); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis, type IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Nemaline myopathy 2 (NEB); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); Primary hyperoxaluria, type I (AGXT); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasias, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spinal muscular atrophy (SMN1); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Tay-Sachs disease (HEXA); Tyrosinemia, type I (FAH); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Wilson disease (ATP7B); Zellweger spectrum disorders, PEX2-related (PEX2) Categories: Price: $2508 |
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QNatal® Advanced
*Build Your Own Panel Eligible [?]
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$4571 | |
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Description: QNatal® Advanced is a cell-free DNA test that screens for increased risk of certain fetal chromosomal abnormalities that may cause birth defects, including Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome), Trisomy 13 (Patau Syndrome) and certain sex chromosome abnormalities (i.e., 45,X, 47,XXY, 47,XXX, and 47,XYY). In addition, if selected as an option, QNatal Advanced can screen for certain microdeletions (i.e., 22q, 5p, 1p36, 15q, 11q, 8q, and 4p) that may cause birth defects, and/or for fetal sex.This test does not assess the risk of fetal anomalies such as neural tube defects or ventral wall defects. QNatal Advanced is not recommended before 10 weeks of gestation due to a significantly increased risk of a failed result.QNatal Advanced is a screening test, not a diagnostic test, and therefore all positive/increased risk results should be followed by genetic counseling and further diagnostic testing and procedures, when clinically indicated. Pregnancy management decisions should not be based on the results of this screening test alone. As with any test, there may be false positives or false negatives. All results should be interpreted in the context of pertinent clinical findings, relevant obstetric history and laboratory data based on a clear understanding of the value and limitations of the test data.The positive predictive value varies by patient risk factors as well as by genetic marker, and may be lower for rare conditions. Performance data for QNatal® Advanced may be obtained by contacting Quest Diagnostics at 1.866.GENE.INFO (1.866.436.3463). Categories: Price: $4571 |
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QNatal® Chr 13,18,21, SCA
*Build Your Own Panel Eligible [?]
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$4527 | |
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Description: QNatal Chr 13,18,21, SCA is a cell-free DNA test that screens for increased risk of certain fetal chromosomal abnormalities that may cause birth defects, including Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome), Trisomy 13 (Patau Syndrome), certain sex chromosome abnormalities (i.e., 45,X, 47,XXY, 47,XXX, and 47,XYY), and/or fetal sex.This test does not assess the risk of fetal anomalies such as neural tube defects or ventral wall defects. QNatal Chr 13,18,21, SCA is not recommended before 10 weeks gestation due to a significantly increased risk of a failed result.QNatal Chr 13,18,21, SCA is a screening test, not a diagnostic test, and therefore all positive/increased risk results should be followed by genetic counseling and further diagnostic testing and procedures, when clinically indicated. Pregnancy management decisions should not be based on the results of this screening test alone. As with any test, there may be false positives or false negatives. All results should be interpreted in the context of pertinent clinical findings, relevant obstetric history and laboratory data based on a clear understanding of the value and limitations of the test data.The positive predictive value varies by patient risk factors as well as by genetic marker and may be lower for rare conditions. Performance data for the QNatal Chr 13,18,21, SCA may be obtained by contacting Quest Diagnostics at 1.866.GENE.INFO (1.866.436.3463). Categories: Price: $4527 |
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QNatal® Chr 13,18,21, SCA, 22q Microdel
*Build Your Own Panel Eligible [?]
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$4593 | |
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Description: QNatal Chr 13,18,21, SCA, 22q Microdel is a cell-free DNA test that screens for increased risk of certain fetal chromosomal abnormalities that may cause birth defects, including Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome), Trisomy 13 (Patau Syndrome) and certain sex chromosome abnormalities (i.e., 45,X, 47,XXY, 47,XXX, and 47,XYY). In addition, QNatal Chr 13,18,21, SCA, 22q Microdel screens for 22q microdeletions that may cause birth defects, and/or for fetal sex.This test does not assess the risk of fetal anomalies such as neural tube defects or ventral wall defects. QNatal Chr 13,18,21, SCA, 22q Microdel is not recommended before 10 weeks of gestation due to a significantly increased risk of a failed result.QNatal Chr 13,18,21, SCA, 22q Microdel is a screening test, not a diagnostic test, and therefore all positive/increased risk results should be followed by genetic counseling and further diagnostic testing and procedures, when clinically indicated. Pregnancy management decisions should not be based on the results of this screening test alone. As with any test, there may be false positives or false negatives. All results should be interpreted in the context of pertinent clinical findings, relevant obstetric history and laboratory data based on a clear understanding of the value and limitations of the test data.The positive predictive value varies by patient risk factors as well as by genetic marker, and may be lower for rare conditions. Performance data for QNatal Chr 13,18,21, SCA, 22q Microdel may be obtained by contacting Quest Diagnostics at 1.866.GENE.INFO (1.866.436.3463). Categories: Price: $4593 |
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QNatal® Chr 13,18,21, SCA, Microdels
*Build Your Own Panel Eligible [?]
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$4615 | |
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Description: QNatal Chr 13,18,21, SCA, Microdels is a cell-free DNA test that screens for increased risk of certain fetal chromosomal abnormalities that may cause birth defects, including Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome), Trisomy 13 (Patau Syndrome) and certain sex chromosome abnormalities (i.e., 45,X, 47,XXY, 47,XXX, and 47,XYY). In addition, QNatal Chr 13,18,21, SCA, Microdels screens for certain microdeletions (i.e., 22q, 5p, 1p36, 15q, 11q, 8q, and 4p) that may cause birth defects, and/or for fetal sex.This test does not assess the risk of fetal anomalies such as neural tube defects or ventral wall defects. QNatal Chr 13,18,21, SCA, Microdels is not recommended before 10 weeks of gestation due to a significantly increased risk of a failed result.QNatal Chr 13,18,21, SCA, Microdels is a screening test, not a diagnostic test, and therefore all positive/increased risk results should be followed by genetic counseling and further diagnostic testing and procedures, when clinically indicated. Pregnancy management decisions should not be based on the results of this screening test alone. As with any test, there may be false positives or false negatives. All results should be interpreted in the context of pertinent clinical findings, relevant obstetric history and laboratory data based on a clear understanding of the value and limitations of the test data.The positive predictive value varies by patient risk factors as well as by genetic marker, and may be lower for rare conditions. Performance data for QNatal Chr 13,18,21, SCA may be obtained by contacting Quest Diagnostics at 1.866.GENE.INFO (1.866.436.3463). Categories: Price: $4615 |
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QuantiFERON®-TB Gold Plus
*Build Your Own Panel Eligible [?]
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$320 | |
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Description: This test is a blood-based interferon-gamma release assay (IGRA) used as an aid in the diagnosis of Mycobacterium tuberculosis infection. It is an immune response-based, indirect test for M tuberculosis infection (including disease) and is intended for use in conjunction with risk assessment, radiography, and other medical and diagnostic evaluations. Additional testing is needed to determine if a person who has tested positive has latent tuberculosis (TB) infection or TB disease.
This in vitro diagnostic test uses a peptide cocktail simulating ESAT-6, CFP-10, and TB7.7 proteins to stimulate cells in heparinized whole blood. Detection of interferon-γ (IFN-γ) by ELISA is used to identify in vitro responses to those peptide antigens that are associated with Mycobacterium tuberculosis infection.
Guidelines recommend testing for individuals who 1) have been exposed to a person with latent or active TB, including the general population and healthcare workers; 2) are from TB-endemic countries, which include most countries in Latin America, the Caribbean, Africa, Asia, and Eastern Europe, and Russia; 3) work in high-risk settings, such as correctional facilities, long-term care (LTC) facilities, nursing homes, and homeless shelters; or 4) have HIV or have an injection drug substance use disorder [1].
All of these individuals can be tested with either a traditional tuberculin skin test (TST) or an IGRA. However, the American Thoracic Society (ATS), the Infectious Disease Society of America (IDSA), and the Centers for Disease Control and Prevention (CDC) jointly prefer an IGRA test for individuals who have been vaccinated against bacillus Calmette-Guérin (BCG) or are not likely to return for the follow-up portion of the TST (and in both cases are at least 5 years old and likely to have TB infection and are at low or moderate risk of disease progression, or in whom it has been determined that TB testing is necessary [1]. The QuantiFERON-TB Gold test has specificity >99% in low-risk individuals and sensitivity of 92% in individuals with active disease [2].
In contrast to the TST, IGRA testing for TB requires only 1 patient visit (instead of 2). Also, IGRAs are not associated with the booster phenomenon, in which previously infected individuals generate a false-positive on a TST. In addition, prior BCG vaccination does not generate a false-positive result. Note that for children aged 2 and above, either TST or IGRA can be used [3,4]
The CDC does not recommend dual testing with both a TST and an IGRA, unless the goal is to confirm a positive result, or when a high-risk individual’s test results are negative and there is clinical suspicion of TB. In this clinical situation, dual testing is used for confirmatory purposes [4].
Note that when using QuantiFERON®-TB Gold Plus, blood samples must be processed within 16 to 48 hours after collection while white blood cells are still viable.
References 1. Lewinsohn DM, et al. Clin Inf Dis. 2017;64:111-115. 2. QuantiFERON®-TB Gold Elisa. Germantown, MD: Qiagen; August 2016. 3. American Academy of Pediatrics. In: Kimberlin DW, et al, eds. Red Book: 2018 Report of the Committee on Infectious Diseases, 31st ed. Itasca, IL: American Academy of Pediatrics;2018: 829-853. 4. CDC. Fast facts: Interferon-gamma release assays (IGRAs)-blood tests for TB infection. Published November 2011. https://www.cdc.gov/tb/publications/factsheets/testing/igra.htm Alternative names: QFT Gold Plus,IGRA,QFT Plus,TB Gold,QFT TB Patient Instructions: Fasting is not required. Categories: Infectious diseases, Price: $320 |
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QuantiFERON®-TB Gold Plus, 4 Tubes, Draw Site Incubated
*Build Your Own Panel Eligible [?]
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$320 | |
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Description: This test is a blood-based interferon-gamma release assay (IGRA) used as an aid in the diagnosis of Mycobacterium tuberculosis infection. It is an immune response-based, indirect test for M tuberculosis infection (including disease) and is intended for use in conjunction with risk assessment, radiography, and other medical and diagnostic evaluations. Additional testing is needed to determine if a person who has tested positive has latent tuberculosis (TB) infection or TB disease. This in vitro diagnostic test uses a peptide cocktail simulating ESAT-6, CFP-10, and TB7.7 proteins to stimulate cells in heparinized whole blood. Detection of interferon-γ (IFN-γ) by ELISA is used to identify in vitro responses to those peptide antigens that are associated with Mycobacterium tuberculosis infection. This test uses a 4-tube blood collection method, which requires incubation before submitting to the lab. For the single-tube QFT-Plus testing option, see test code #36970. Guidelines recommend testing for individuals who 1) have been exposed to a person with latent or active TB, including the general population and healthcare workers; 2) are from TB-endemic countries, which include most countries in Latin America, the Caribbean, Africa, Asia, and Eastern Europe, and Russia; 3) work in high-risk settings, such as correctional facilities, long-term care (LTC) facilities, nursing homes, and homeless shelters; or 4) have HIV or have an injection drug substance use disorder [1]. All of these individuals can be tested with either a traditional tuberculin skin test (TST) or an IGRA. However, the American Thoracic Society (ATS), the Infectious Disease Society of America (IDSA), and the Centers for Disease Control and Prevention (CDC) jointly prefer an IGRA test for individuals who have been vaccinated against bacillus Calmette-Guérin (BCG) or are not likely to return for the follow-up portion of the TST (and in both cases are at least 5 years old and likely to have TB infection and are at low or moderate risk of disease progression, or in whom it has been determined that TB testing is necessary [1]. The QuantiFERON-TB Gold test has specificity >99% in low-risk individuals and sensitivity of 92% in individuals with active disease [2]. In contrast to the TST, IGRA testing for TB requires only 1 patient visit (instead of 2). Also, IGRAs are not associated with the booster phenomenon, in which previously infected individuals generate a false-positive on a TST; and prior BCG vaccination does not generate a false-positive result. Note that for children aged 2 and above, either TST or IGRA can be used [3,4]. The CDC does not recommend dual testing with both a TST and an IGRA, unless the goal is to confirm a positive result, or when a high-risk individual’s test results are negative and there is clinical suspicion of TB. In this clinical situation, dual testing is used for confirmatory purposes [4]. For more information about TST versus IGRA testing, please visit the QuantiFERON®-TB Gold FAQs page. Note: Specimens collected for this test must be transferred to a 37 °C incubator as soon as possible (within 16 hours of collection). An alternative, single-tube test option (QuantiFERON®-TB Gold Plus, 1 Tube; test code 36970) allows the specimen to be stabilized for up to 48 hours before incubation. References 1. Lewinsohn DM, et al. Clin Inf Dis. 2017;64:111-115. 2. QuantiFERON®-TB Gold Elisa [package insert]. Germantown, MD: Qiagen; August 2016. 3. American Academy of Pediatrics. In: Kimberlin DW, et al, eds. Red Book: 2018 Report of the Committee on Infectious Diseases, 31st ed. Itasca, IL: American Academy of Pediatrics;2018: 829-853. 4. CDC. Fast facts: Interferon-gamma release assays (IGRAs)-blood tests for TB infection. Published November 2011. https://www.cdc.gov/tb/publications/factsheets/testing/igra.htm Categories: Price: $320 |
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Quantitative HIV-1, Real-Time PCR
*Build Your Own Panel Eligible [?]
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$674 | |
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Description: This test is intended for the use in conjunction with clinical presentation and other laboratory markers of disease progress for the clinical management of HIV-1 infected patients. The test can be used to assess patient prognosis by measuring the baseline HIV-1 RNA level or to monitor the effects of antiretroviral therapy by measuring changes in EDTA plasma HIV-1 RNA levels during the course of antiretroviral treatment. Categories: Price: $674 |
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Quantitative Thyroglobulin without Thyroglobulin Antibodies
*Build Your Own Panel Eligible [?]
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$146 | |
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Description: Thyroglobulin (TG) is a secretory product only of the thyroid gland. The major clinical use of serum TG measurement is to monitor, but not to diagnose, patients with well-differentiated thyroid cancers. The measurement of thyroglobulin, after thyroidectomy and ablation of the thyroid gland, is useful to determine metastasis. Deficient TG synthesis is observed in infants with goitrous hypothyroidism. With immunometric assays (sandwich assays), TGAB interference typically produces inappropriately low TG results, most likely caused by endogenous TG immune complexes that block one or more of the reagent Ab from binding endogenous TG. Categories: Price: $146 |
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Queen Palm (t72) IgE
*Build Your Own Panel Eligible [?]
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$49 | |
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Description: This test that quantifies an individual’s IgE response to Queen palm. It is an in vitro quantitative assay, which is intended to be used in conjunction with other clinical information to aid in the diagnosis of allergic diseases [1]. While allergen-specific serum IgE testing is considered comparable to skin testing in many instances, both the American Academy of Allergy, Asthma, and Immunology and the American College of Allergy, Asthma, and Immunology recognize that allergen-specific serum IgE testing may be preferred in some clinical situations. These include 1) the presence of widespread skin disease, 2) the recent use of antihistamines or other medications that can affect the results of allergy skin tests, 3) uncooperative patients, and 4) medical history suggesting that allergen skin testing would pose a significant risk for a serious allergic reaction [1]. A definitive clinical diagnosis of allergy should not be based on the results of any single diagnostic method, but should be made by a trained healthcare professional after all clinical and laboratory findings have been evaluated. More specific information about this allergen can be found at http://www.phadia.com/en/products/allergy-testing-products/immunocap-allergen-information/tree-pollens/allergens/queen-palm/ Reference 1. Bernstein IL, et al. Ann Allergy Asthma Immunol. 2008;100(suppl 3):S1-S148. Categories: Price: $49 |
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Quest AD-Detect® Beta-Amyloid 42/40 Ratio, Plasma
*Build Your Own Panel Eligible [?]
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$814 | |
Description:
Includes: Quest AD-Detect® Beta-Amyloid 42/40 Ratio, Plasma Categories: Price: $814 |
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Quest AD-Detect® Phosphorylated tau181(p-tau181), Plasma
*Build Your Own Panel Eligible [?]
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$563 | |
Description:
Includes: Quest AD-Detect® Phosphorylated tau181(p-tau181), Plasma Patient Instructions: Dietary supplements containing biotin may interfere in assays and may skew results to be either falsely high or falsely low. For patients receiving the recommended daily doses of biotin, draw samples at least 8 hours following the last biotin supplementation. For patients on mega-doses of biotin supplements, draw samples at least 72 hours following the last biotin supplementation. Categories: Price: $563 |
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QuestAssureD™ 25-Hydroxy and Calcitriol 1,25-Dihydroxyvitamin D
*Build Your Own Panel Eligible [?]
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$167 | |
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Description: Vitamin D originating from dietary and endogenous sources is converted to 25-hydroxyvitamin D in the liver, and subsequently to 1, 25-dihydroxyvitamin D in the kidney. Measurement of both the 1, 25-Dihydroxy and 25-Hydroxy forms provide insights into a variety of medical conditions such Vitamin D status in renal failure, differential diagnosis of primary, secondary and tertiary hyperparathyroidism. Differential diagnosis of hypercalcemia and type I and II inherited rickets. Categories: Price: $167 |
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QuestAssureD™ for Infants, 25-Hydroxyvitamin D
*Build Your Own Panel Eligible [?]
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$80 | |
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Description: While measurements of 25(OH)D provide a good index of circulating Vitamin D activity in patients not suffering from renal disease, for infants less than 3 years of age it is important to remove circulating levels of the inactive c3-epimer of Vitamin D from the sample so that total Vitamin D levels are not falsely elevated. Falsely elevated results could erroneously make the child appear to be within normal limits and result in potential under-treatment. Levels of c3-epimer in older children and adults are usually negligible and do not cause falsely elevated Vitamin D results.This assay employs advanced liquid chromatography - tandem mass spectrometry, which enables the chromatographic separation of the c3-epimer from 25-OH Vitamin D, thereby allowing accurate measurement in the presence of c3-epimer. While this assay will produce accurate Vitamin D results on patients of any age, it is specifically indicated for infants less than 3 years of age. Categories: Price: $80 |
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Quetiapine, Serum/Plasma
*Build Your Own Panel Eligible [?]
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$386 | |
Description:
Categories: Price: $386 |
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Quinidine
*Build Your Own Panel Eligible [?]
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$180 | |
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Description: Quinidine is used in the treatment of acute and chronic supraventricular arrhythmias and ectopic rhythm disturbances. Quinidine clearance can be altered by changes in plasma proteins and in renal and/or hepatic dysfunction. Both quinidine and the related isomer quinine possess antimalarial schizonticide activity. Quinidine levels are monitored to assure adequate therapeutic levels are achieved and to avoid toxicity. Categories: Price: $180 |
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Quinoa (f347) IgE
*Build Your Own Panel Eligible [?]
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$49 | |
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Description: This test detects the presence of specific IgE against quinoa. A positive test only indicates that a person is sensitized and potentially allergic to this allergen. A diagnosis of allergy requires clinical signs and symptoms that appear to be associated with exposure to the allergen in addition to the detection of markers of IgE sensitization [1].More specific information about this allergen can be found on the following website: https://www.thermofisher.com/phadia/us/en/resources/allergen-encyclopedia.htmlReference1. Bernstein IL, et al. Ann Allergy Asthma Immunol. 2008;100(3 Suppl 3):S1-S148. Categories: Price: $49 |
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Rabbit Epithelia (e82) IgE
*Build Your Own Panel Eligible [?]
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$49 | |
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Description: This allergen-specific IgE antibody test quantifies an individual’s IgE response to rabbit epithelia. It is an in vitro quantitative assay that is intended to be used in conjunction with other clinical information to aid in the diagnosis of allergic diseases [1]. While allergen-specific serum IgE testing is considered comparable to skin testing in many instances, both the American Academy of Allergy, Asthma, and Immunology and the American College of Allergy, Asthma, and Immunology recognize that allergen-specific serum IgE testing may be preferred in some clinical situations. These include 1) the presence of widespread skin disease, 2) the recent use of antihistamines or other medications that can affect the results of allergy skin tests, 3) uncooperative patients, and 4) medical history suggesting that allergen skin testing would pose a significant risk for a serious allergic reaction [1]. A definitive clinical diagnosis of allergy should not be based on the results of any single diagnostic method, but should be made by a trained healthcare provider after all clinical and laboratory findings have been evaluated. More specific information about this allergen can be found at http://www.phadia.com/en/Products/Allergy-testing-products/ImmunoCAP-Allergen-Information/Epidermals-and-Animal-Proteins/Allergens/Rabbit-epithelium/ Reference 1. Bernstein IL, et al. Ann Allergy Asthma Immunol. 2008;100(Suppl 3):S1-S148. Categories: Price: $49 |
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Rabbit (f213) IgE
*Build Your Own Panel Eligible [?]
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$49 | |
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Description: This test detects the presence of specific IgE against rabbit meat. A positive test only indicates that a person is sensitized and potentially allergic to this allergen. A diagnosis of allergy requires clinical signs and symptoms that appear to be associated with exposure to the allergen in addition to the detection of markers of IgE sensitization [1].More specific information about this allergen can be found on the following website: https://www.thermofisher.com/phadia/us/en/resources/allergen-encyclopedia.htmlReference1. Bernstein IL, et al. Ann Allergy Asthma Immunol. 2008;100(3 Suppl 3):S1-S148. Categories: Price: $49 |
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Rabies Vaccine Response End Point Titer
*Build Your Own Panel Eligible [?]
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$298 | |
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Description: RFFIT stands for Rapid Fluorescent Foci Inhibition Test. It is a serum neutralization (inhibition) test, which means it measures the ability of rabies specific antibodies to neutralize rabies virus and prevent the virus from infecting cells. The antibodies are called rabies virus neutralizing antibodies (RVNA). Alternate names: RFFIT Categories: Price: $298 |
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Rape Seed (rf316) IgE
*Build Your Own Panel Eligible [?]
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$49 | |
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Description: This test is an allergen-specific IgE antibody test that quantifies an individual’s IgE response to rapeseed. It is an in vitro quantitative assay, which is intended to be used in conjunction with other clinical information to aid in the diagnosis of food allergy [1]. While allergen-specific serum IgE testing is considered comparable to skin testing in many instances, both the American Academy of Allergy, Asthma, and Immunology and the American College of Allergy, Asthma, and Immunology recognize that allergen-specific serum IgE testing may be preferred in some clinical situations. These include 1) the presence of widespread skin disease, 2) the recent use of antihistamines or other medications that can affect the results of allergy skin tests, 3) uncooperative patients, and 4) medical history suggesting that allergen skin testing would pose a significant risk for a serious allergic reaction [1]. Food-specific IgE tests are extremely sensitive. However, a positive test result only indicates that a patient is IgE sensitized to the food of concern. Many IgE-sensitized patients do not develop any symptoms when this food is ingested. A diagnosis of food allergy should only be made by a trained medical provider, after conducting a thorough clinical evaluation [2,3]. While food-specific IgE test results may contribute to that evaluation, they cannot replace it. In this regard, detection of food-specific IgE in serum provides evidence of IgE sensitization, but a history of clinical reactivity to the food of concern, is required to make a diagnosis of IgE-mediated food allergy. Moreover, several forms of food hypersensitivity are not associated with the presence of food-specific IgE in serum. More specific information about this allergen can be found at http://www.phadia.com/en/products/allergy-testing-products/immunocap-allergen-information/food-of-plant-origin/seeds--nuts/rape-seed-/ References 1. Bernstein IL, et al. Ann Allergy Asthma Immunol. 2008;100(suppl 3):S1-S148. 2. Sampson HA, et al. J Allergy Clin Immunol. 2014;134(5):1016-1025. 3. Boyce JA, et al. J Allergy Clin Immunol. 2010;126(6 suppl):S1-S58. Categories: Price: $49 |
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Rape Weed (w203) IgE
*Build Your Own Panel Eligible [?]
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$49 | |
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Description: This test quantifies an individual’s IgE response to the pollen rape weed. It is an in vitro quantitative assay, which is intended to be used in conjunction with other clinical information to aid in the diagnosis of allergic diseases [1]. While allergen-specific serum IgE testing is considered comparable to skin testing in many instances, both the American Academy of Allergy, Asthma, and Immunology and the American College of Allergy, Asthma, and Immunology recognize that allergen-specific serum IgE testing may be preferred in some clinical situations. These include 1) the presence of widespread skin disease, 2) the recent use of antihistamines or other medications that can affect the results of allergy skin tests, 3) uncooperative patients, and 4) medical history suggesting that allergen skin testing would pose a significant risk for a serious allergic reaction [1]. A definitive clinical diagnosis of allergy should not be based on the results of any single diagnostic method, but should be made by a trained healthcare professional after all clinical and laboratory findings have been evaluated. More specific information about this allergen can be found at http://www.phadia.com/en/Products/Allergy-testing-products/ImmunoCAP-Allergen-Information/Weed-Pollens/Allergens/Rape/ Reference 1. Bernstein IL, et al. Ann Allergy Asthma Immunol. 2008;100(suppl 3):S1-S148. Categories: Price: $49 |
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RAS Mutation Analysis, Cell-based
*Build Your Own Panel Eligible [?]
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$2262 | |
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Description: Activating RAS mutations can be found in human malignancies with an overall frequency of 15-20%. A high incidence of RAS gene mutations has been reported in malignant tumors of the pancreas (80-90%, KRAS), in colorectal carcinomas (30-60%, KRAS), in non-melanoma skin cancer (30-50%, HRAS), in hematopoietic neoplasia of myeloid origin (18-30%, KRAS or NRAS). The presence of KRAS mutation in most tumor types is associated with adverse prognosis as well as resistance to receptor tyrosine kinase-directed targeted therapies, including against EGFR. The presence of a KRAS G12C mutation has been shown to be associated with response to targeted therapy with KRAS G12C inhibitors. KRAS, along with others, is an emerging biomarkers in NSCLC (non-small cell lung cancer) and other tumor types. Currently, in NSCLC the KRAS G12C mutation is prevalent in approximately 13% of patients and represents nearly half (44%) of all KRAS mutations. Investigational agents targeting KRAS G12C are currently in clinical trials. Categories: Price: $2262 |
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RAS Mutation Analysis, Thyroid Cancer
*Build Your Own Panel Eligible [?]
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$2278 | |
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Description: Activating mutations in the RAS genes, particularly NRAS, have been detected in follicular thyroid carcinomas (up to 40%) and papillary thyroid carcinomas (up to 10%), but are also seen commonly in follicular adenomas. Correlation with morphologic and clinical findings is thus required. Categories: Price: $2278 |
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Raspberry IgG
*Build Your Own Panel Eligible [?]
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$228 | |
Description:
Categories: Price: $228 |
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Raspberry (rf343) IgE
*Build Your Own Panel Eligible [?]
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$49 | |
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Description: This test detects the presence of specific IgE against raspberries. A positive test only indicates that a person is sensitized and potentially allergic to this allergen. A diagnosis of allergy requires clinical signs and symptoms that appear to be associated with exposure to the allergen in addition to the detection of markers of IgE sensitization [1].More specific information about this allergen can be found on the following website: https://www.thermofisher.com/phadia/us/en/resources/allergen-encyclopedia.htmlReference1. Bernstein IL, et al. Ann Allergy Asthma Immunol. 2008;100(3 Suppl 3):S1-S148. Categories: Price: $49 |
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Rat (e87) IgE
*Build Your Own Panel Eligible [?]
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$49 | |
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Description: This test detects the presence of specific IgE against rats. A positive test only indicates that a person is sensitized and potentially allergic to this allergen. A diagnosis of allergy requires clinical signs and symptoms that appear to be associated with exposure to the allergen in addition to the detection of markers of IgE sensitization [1]. More specific information about this allergen can be found on the following website: https://www.thermofisher.com/phadia/us/en/resources/allergen-encyclopedia.html Reference 1. Bernstein IL, et al. Ann Allergy Asthma Immunol. 2008;100(3 Suppl 3):S1-S148. Categories: Price: $49 |
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Rat Epithelia (e73) IgE
*Build Your Own Panel Eligible [?]
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$49 | |
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Description: This test quantifies an individual's IgE response to rat epithelia. Allergen-specific serum IgE testing is considered comparable to skin testing and may be preferred in some clinical situations. However, a positive test result only indicates that a patient is sensitized to the allergen of concern. Many IgE-sensitized individuals do not develop any symptoms when exposed to the allergen. A diagnosis of allergy should only be made by a trained medical provider after conducting a thorough clinical evaluation [1].More specific information about this allergen can be found on the following website: https://www.thermofisher.com/phadia/us/en/resources/allergen-encyclopedia.htmlReference1. Bernstein IL, et al. Ann Allergy Asthma Immunol. 2008;100(3 Suppl 3):S1-S148. Categories: Price: $49 |
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Recombx® Amphiphysin Autoantibody Test
*Build Your Own Panel Eligible [?]
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$764 | |
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Description: Anti-Amphiphysin antibody is found in patients with sensory neuropathy, Stiff-Person syndrome, paraneoplastic encephalomyelitis (PEM), limbic encephalitis, or myelopathy. This semi-quantitative assay may useful in monitoring therapeutic responses in select cases. Categories: Price: $764 |
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Recombx® Amphiphysin Autoantibody Test (Autoimmune Rapidly Progressive Dementia)
*Build Your Own Panel Eligible [?]
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$764 | |
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Description: Anti-Amphiphysin antibody is found in patients with autoimmune Rapidly Progressive Dementia. This semi-quantitative assay may be useful in monitoring therapeutic responses in select cases. Categories: Price: $764 |
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Recombx® CAR (Anti-Recoverin) Autoantibody Test
*Build Your Own Panel Eligible [?]
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$780 | |
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Description: Anti-recoverin antibodies can be detected in patients with cancer-associated retinopathy (CAR). This semi-quantitative assay may be useful in monitoring therapeutic responses in select cases. Categories: Price: $780 |
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