Description: This fluorescence in situ hybridization (FISH) assay detects trisomy of chromosome 12 and may aid in the prognostic assessment for chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).The most common genetic abnormalities of CLL/SLL are del(13q), del(11q), trisomy 12, and del (17p). At least one of these 4 genetic abnormalities can be detected with FISH in >80% of patients with CLL/SLL [1]. Evaluation of these frequent genetic abnormalities is recommended for the investigation of prognosis [2] and may inform treatment decisions [3]. Trisomy 12 can be detected with FISH in 16% of patients with CLL/SLL [1] and is more likely to occur in patients with enlarged proliferation centers [2]. Although the genes involved in trisomy 12 are unknown, the presence of trisomy 12 confers an intermediate prognostic risk [3].A combination of genetic techniques is often involved in identifying genetic abnormalities. FISH testing is complementary to conventional cytogenetic analysis (karyotyping) and can be used to detect common cytogenetic abnormalities. However, because FISH is limited to probing specific chromosomal regions, it does not replace conventional cytogenetic analysis or chromosomal microarray for screening unknown abnormalities.The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.References1. Dohner H, et al. N Engl J Med. 2000;343(26):1910-1916.2. Naresh KN, et al. B-cell lymphoid proliferations and lymphomas. In: WHO Classification of Tumours Editorial Board. The World Health Organization Classification of Haematolymphoid Tumours. 5 Beta V2 ed. IARC Press; 2022:chap 4. Accessed June 16, 2023. https://tumourclassification.iarc.who.int3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Chronic lymphocytic leukemia/small lymphocytic lymphoma. Version 3.2023. Updated June 12, 2023. https://www.nccn.org

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Price: $1206

Description: This test uses fluorescence in situ hybridization (FISH) to detect molecular rearrangement of the BCR and ABL1 genes involved in translocation t(9;22). This translocation, resulting in an abnormally short chromosome 22 known as the Philadelphia chromosome (Ph), is associated with chronic myelogenous leukemia (CML), de novo acute myeloid leukemia, and acute lymphocytic leukemia (ALL) [1-3]. This test may also be used in the evaluation of Ph-negative CML and complex gene rearrangements [4].CML is defined as a myeloproliferative neoplasm with the presence of Ph. When blood and bone marrow morphology findings suggest CML, the diagnosis is confirmed by identifying Ph using chromosome analysis and/or by detecting the BCR-ABL1 fusion gene with PCR or FISH. In 5% to10% of CML patients who have complex translocations involving chromosomes 9, 22, and other chromosome(s), Ph cannot be identified by chromosome analysis. In these patients, FISH is especially useful for detecting BCR/ABL1 rearrangement [4]. Ph is also present in some adults (~25%) and children (2%-4%) with ALL [2]. This test can be used to identify ALL with the t(9;22) BCR/ABL1 rearrangement (Ph-positive ALL).FISH can be performed on bone marrow specimens and/or on peripheral blood. When bone marrow evaluation is not feasible, FISH on a peripheral blood specimen can be used to confirm the diagnosis of CML. The dual-fusion FISH assay used in this test has a low false-positive rate and can detect all variant translocations of Ph. However, this test is not quantitative and has not been adequately studied to confirm utility in monitoring response to treatment. qPCR is the most sensitive assay for measurement of BCR-ABL1 mRNA [1].The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.References1. NCCN clinical practice guidelines in oncology: Chronic myeloid leukemia, Version 1.2022. National Comprehensive Cancer Network. Accessed November 9, 2021. https://www.nccn.org/2. NCCN clinical practice guidelines in oncology: Acute lymphoblastic leukemia, Version 2.2021. National Comprehensive Cancer Network. Accessed November 9, 2021. https://www.nccn.org/3. Arber DA, et al. Blood. 2016;127(20):2391-2405.4. Albano F, et al. Mol Cancer. 2010;9:120.

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Price: $842

Description: This test uses fluorescence in situ hybridization (FISH) technology to detect a deletion of the short arm of chromosome 5 in individuals with clinically suspected 5p- syndrome (cri du chat syndrome). Infants with this syndrome often have low birth weight, weak muscle tone, and a characteristic high-pitched cry that resembles that of a cat. Patients may also have developmental delay, intellectual disability, characteristic facial features, a small head, and dental malocclusions [1].5p- syndrome, though rare, is one of the most common structural chromosomal anomalies. It is caused by a partial or complete deletion of the short arm of chromosome 5. Clinical manifestation, severity, and progression of the disease largely depend on the type, size, and region of the deletion(s). Diagnosis is based on clinical findings and can be confirmed by chromosomal karyotyping. When the karyotype appears normal but clinical suspicion for 5p-syndrome is high, FISH or chromosomal microarray analysis may aid in diagnosis [1]. However, a negative FISH result (ie, no deletion detected) does not rule out 5p- syndrome.The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.Reference1. Ajitkumar A, et al. Cri du chat syndrome. In: StatPearls [Internet]. StatPearls Publishing; 2021. Accessed October 18, 2021. https://www.ncbi.nlm.nih.gov/books/NBK482460/

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Price: $790

Description: The CRLF2 (cytokine receptor-like factor 2) break apart FISH probe allows for identification of the rearrangement in blood or bone marrow samples. CRLF2 rearrangements are primarily associated with B-cell ALL, commonly fusing with either the immunoglobulin heavy chain gene on chromosome 14, or the P2RY8 gene, located within the pseudoautosomal region (PAR), on chromosomes X and Y.

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Price: $897

Description: The DDIT3 (CHOP) dual color break apart probe set will detect rearrangements of chromosome region 12q13.1-12q13.2 from cultured cells and FFPE sections. Liposarcoma is the most common soft tissue malignancy in adults accounting for at least 20% of all sarcomas in this age group. DDIT3 is implicated in two translocations associated with myxoid- round cell liposarcoma: t(12;16)(q13;p11) and t(12;22) (q13;q12) creating FUS/DDIT3 and EWS/DDIT3 chimeric genes, respectively. Also DDIT3 may be involved in translocations with variant chromosome regions. The fusion genes generated as a result of chromosomal rearrangements are used to monitor diagnosis and treatment.

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Price: $1021

Description: This test uses fluorescence in situ hybridization (FISH) technology to detect microdeletions in the chromosome 22q11.2 region when there is clinical suspicion of 22q11.2 deletion syndrome. Chromosome 22q11.2 deletions are associated with conditions including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). 22q11.2 deletion syndrome cannot be detected by conventional or high-resolution chromosome analysis (karyotyping) [1,2].Common clinical features associated with 22q11.2 deletion syndrome include congenital heart disease (64%); palate deformities (67%), especially cleft palate; learning difficulties (70%-90%); immune deficiency (77%); hypocalcemia (50%); gastrointestinal anomalies; renal anomalies (16%); skeletal abnormalities; and ocular abnormalities [3].The FISH DGS/VCFS test is generally ordered for individuals with clinical suspicion of 22q11.2 deletion syndrome. This FISH test can also be performed on prenatal specimens, such as chorionic villus sampling and amniotic fluid specimens [4].Note: Most deletions associated with 22q11.2 deletion syndrome can be detected with FISH. However, some affected individuals have smaller, atypical, nested deletions that cannot be detected with FISH but can be detected with chromosomal microarray analysis (CMA).The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.References1. Novelli A, et al. Molec Cellular Probes. 1999;13(4):303-307.2. International 22q11.2 Foundation. Deletion vs. Duplication. Accessed August 27, 2021. https://22q.org/what-is-22q/deletion-vs-duplication/3. McDonald-McGinn DM, et al. 22q11.2 deletion syndrome. In: Adam MP, et al., ed. GeneReviews®. University of Washington; September 23, 1999. Accessed August 27, 2021. https://www.ncbi.nlm.nih.gov/books/NBK1523/4. Driscoll DA. Genet Med. 2001;3(1):14-18.

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Price: $790

Description: The epidermal growth factor receptor (EGFR) is a cellular transmembrane receptor with tyrosine kinase enzymatic activity that plays a key role in human cancer. EGFR-dependent signaling is involved in cancer cell proliferation, apoptosis, angiogenesis, invasion and metastasis. Targeting the EGFR is a valuable molecular approach to cancer therapy. Lung Cancer: Epidermal growth factor receptor (EGFR) Inhibitors have shown promising results in patients with advanced non-small cell lung cancers (NSCLC), who previously have failed on chemotherapy. Colorectal Cancer: The antiepidermal growth factor receptor (anti-EGFR) monoclonal antibodies, cetuximab and pantiumamab, have good clinical activity in about 10% of patients with metastatic colorectal cancer that is resistant to chemotherapy. Breast Cancer: EGFR levels were examined by radioligand binding assays in 846 patients with invasive breast cancer. The median follow-up period was 50 months. There was a wide variablility of EGRF levels among the studied tumors (0.01-403 fmol/mg protein).

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Price: $790

Description: This fluorescence in situ hybridization (FISH) assay detects the ETV6/RUNX1 (TEL/AML1) fusion gene and is used for determining prognosis of patients with acute lymphoblastic leukemia (ALL) and monitoring for recurrence. The ETV6/RUNX1 (TEL/AML1) fusion gene results from the t(12;21)(p13;q22) translocation and is usually undetectable by conventional chromosome analysis [1]. Although it occurs rarely in adults, it is the most common recurrent translocation in B-lineage pediatric ALL (frequency ~25%) [2]. The presence of the ETV6/RUNX1 (TEL/AML1) fusion gene is indicative of ALL with a favorable prognosis partially due to chemosensitivity, especially in patients

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Price: $809

Description: The ETV6 dual color break apart probe is designed to detect rearrangements involving 12p13 in interphase cells. Rearrangements of the 12p13 region are one of the most common chromosome abnormalities found in human leukemia, myelodysplastic syndromes and myeloproliferative disorders. More than half of the hematologic rearrangements of 12p13 involve ETV6. ETV6 has more than 30 translocation partner genes and five potential disease mechanisms. One of the more common rearrangements is t(12;21)(p13;q22) which is found in 15 to 35% of pediatric B-lineage ALL cases and is often undetected by conventional cytogenetic studies. There is a specific translocation probe set for this rearrangement. However, there are not probe sets for the other partners. Therefore, a break apart probe to define the involvement of ETV6 is important to determining diagnosis and therapy such as tyrosine kinase inhibitors. There are 26 of the more common rearrangement partners reported today.

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Price: $897

Description: A FISH Ewing sarcoma assay by using the LSI (R) EWSR1 (22q12) Dual Color, Break Apart Rearrangement Probe (Vysis) to identify chromosomal rearrangements of the EWSR1 gene region.

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Price: $763

Description: FISH testing with the FGFR1 probe allows detection of translocations involving FGFR1 and another chromosome region (usually a tyrosine kinase coding gene). Fusion of FGFR1 with a tyrosine kinase coding gene leads to kinase activation.

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Price: $825

Description: Translocation t(14;18)(q32;q21.3) is assayed by FISH with probes from the regions IGH (14q32) and BCL2 (18q21.3) this assay is useful to diagnose follicular lymphoma (>75%) and diffuse large cell lymphomas (25%).

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Price: $900

Description: The dual color break apart FUS probe (16p11) is useful for definitive identification of rearrangements in cells from cultures or FFPE. FUS is involved in translocations with several partners and is implicated in leukemias and solid tumors. The myxoid-round cell liposarcoma is characterized by the presence of the reciprocal chromosomal translocation t(12;16)(q13;p11). This translocation creates the DDIT3-FUS chimeric gene and is associated with poor prognosis. FUS has other translocation partners that will be detected by this break apart probe, and it can be useful for investigating rearrangements involving the 16p11 region. This test can be used to assist in diagnosis and response to therapy. Adipose tumors pose difficulties for diagnosis based on histology and clinical features. The differential morphological diagnosis of soft tissue tumors is often complex, including benign versus malignant and sarcoma versus other neoplasms. Liposarcomas are the most frequent soft tissue saracomas that occur in adults. FISH probes can be helpful in differentiating between benign tumors and malignant liposarcoma and in defining the subtype of liposarcoma.

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Price: $1021

Description: HER-2 oncogene amplification in stage 2 lymph node positive breast cancer which aids in treatment selection and prognostication.

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Price: $950

Description: This test uses fluorescence in situ hybridization (FISH) to detect HER2 (also known as ERBB2 or HER-2/neu) oncogene amplification in the invasive component of a breast cancer specimen. This test may be used in patients with diagnosed breast cancer to assess eligibility for HER2-targeted therapy [1,2]. An inconclusive pattern of the results will reflex to an immunohistochemistry (IHC) test on the same specimen.The HER2 gene (also known as ERBB2 or HER-2/neu) encodes the human epidermal growth factor receptor 2. HER2 gene amplification and/or HER2 overexpression are found in up to 20% of primary breast cancers and are associated with adverse disease outcomes [1,3]. HER2 status is most often used to determine patient eligibility for HER2-targeted therapies. These HER2-targeted therapies are not recommended for breast cancers lacking amplification/overexpression of HER2 [1]. Therefore, detection of HER2 amplification/overexpression is important for identifying patients whose cancers are likely to respond to this type of targeted treatment.The American Society of Clinical Oncology/College of American Pathologists (ASCO/CAP) Expert Panel recommends HER2 testing of the invasive component of primary or metastatic tumor tissue in all patients with newly diagnosed breast cancer [2].HER2 status can be assessed by detecting either protein overexpression with immunohistochemistry (IHC) or gene amplification with FISH. If the initial FISH test yields an inconclusive result, then reflex testing using IHC will be performed [2].The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.References1. Wolff AC, et al. Arch Pathol Lab Med. 2014;138(2):241-256.2. Wolff AC, et al. Arch Pathol Lab Med. 2018;142(11):1364-1382.3. Ross JS, et al. Stem Cells. 1998;16(6):413-428.

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Price: $950

Description: FIP1L1-PDGFRa fusion (rearrangement of 4q12; interstitial deletion of CHIC2 region) is observed in diverse eosinophilia-associated hematologic disorders. The cases with FIP1L1-PDGFRa fusion show an excellent response to the tyrosine kinase inhibitor imatinib mesylate (Metzgeroth et al, 2007)

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Price: $1072

Description: High-grade B-cell lymphoma can be difficult to classify if histologic and immunophenotypic features are not entirely typical. Large B-cell lymphoma with monomorphic appearance or very high mitotic rate and Burkitt lymphoma cases that have atypical immunophenotypic or morphologic appearances present diagnostic difficulties. The FISH panel for MYC (8q24), t(14;18) (IGH-BCL2) and BCL6 (3q27) translocations, provides additional diagnostic information that may help in final classification and therapy selection in high-grade B-cell lymphomas as well as to assess for "double-hit" lymphomas and "triple-hit" lymphomas.

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Price: $2257

Description: This test is useful for detecting a neoplastic clone with IGH/BCL3 rearrangement, t(14;19), in patients with Chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) and other lymphoproliferative neoplasms and tracking response to therapy. CLL/SLL is a mature B cell neoplasm characterized by a progressive accumulation of monoclonal B lymphocytes. CLL/SLL is the most common leukemia in adults in Western countries, accounting for approximately 25-30% of all leukemias in the United States. It is estimated that >21,000 new cases of CLL/SLL will be diagnosed each year in the United States. Approximately 0.9% of all newly diagnosed CLL/SLL patients have IGH/BCL3 translocation. CLL/SLL with t(14;19) has been associated with lymphocytosis, atypical immunophenotype and lymphocyte morphology, unmatured IGHV gene, and an aggressive clinical course.

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Price: $900

Description: This test is performed to detect the IGH-CCND1 fusion, translocation t(11;14) by FISH (fluorescence in situ hybridization). This assay is useful for diagnosis of mantle cell lymphoma and, risk assessment for plasma cell myeloma.

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Price: $900

Description: The cytogenetics department has FISH panels for chronic lymphocytic leukemia, plasma cell myeloma, high grade lymphoma and acute lymphoblastic leukemia. The probes in these panels contain probes that determine rearrangements of gene regions with IGH. When IGH is intact in these analyses and there is evidence of a possible variant translocation for a disease-associated gene region, it is important to determine if there is a translocation involving one of the immunoglobulin light chain gene regions. Translocations involving the immunoglobulin loci are recurring events in various subtypes of B-cell lymphomas. In addition to translocations involving the IGH locus, variant translocations have been described in 5-10% of B-cell neoplasms involving either the immunoglobulin kappa (IGK) light chain or the lambda light chain (IGL). The best known translocations involving IG light chain loci are the variant Burkitt's translocations t(2;8)(p12;q24) and t(8;22)(q24;q11) present in up to 25% of all Burkitt's lymphomas. Other translocations involve the BCL6 oncogene: the t(2;3)(p12;q27) and t(3;22)(q27;q11) and BCL2 locus: t(2;18)(p12;q21) and t(18;22)(q21;q11) in F.L. Translocations involving the IG light chain loci usually lead to breakage within the joining region of the respective locus. These IGH and variant rearrangements may occur in combination in "double hit" and "triple hit" lymphomas.The IGK break apart FISH probe allows for definitive identification involving the rearrangement of the immunoglobulin heavy chain locus (IGK) located at chromosome band 2p11.2 in suspension cultures and FFPE tissues, and for the clarification of complex karyotypes. IGK has largely duplicated structure with duplicate gene regions being 96-100% identical. The IGK proximal copy is present in a 542Kb segment with 22 potentially functional variable (IGKV) gene segments and 18 pseudo-genes plus five joining (J)-segments and one IGK constant (IGKC) gene segment. The distal copy is a 433Kb segment with 21 potentially functional IGKV gene segments and 15 pseudo-genes.

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Price: $897

Description: The cytogenetics department has FISH panels for chronic lymphocytic leukemia, plasma cell myeloma, high grade lymphoma and acute lymphoblastic leukemia. The probes in these panels contain probes that determine rearrangements of gene regions with IGH. When IGH is intact in these analyses and there is evidence of a possible variant translocation for a disease-associated gene region, it is important to determine if there is a translocation involving one of the immunoglobulin light chain gene regions. Translocations involving the immunoglobulin loci are recurring events in various subtypes of B-cell lymphomas. In addition to translocations involving the IGH locus, variant translocations have been described in 5-10% of B-cell neoplasms involving either the immunoglobulin kappa (IGK) light chain or the lambda light chain (IGL). The best known translocations involving IG light chain loci are the variant Burkitt's translocations t(2;8)(p12;q24) and t(8;22)(q24;q11) present in up to 25% of all Burkitt's lymphomas. Other translocations involve the BCL6 oncogene: the t(2;3)(p12;q27) and t(3;22)(q27;q11) and BCL2 locus: t(2;18)(p12;q21) and t(18;22)(q21;q11) in F.L. Translocations involving the IG light chain loci usually lead to breakage within the joining region of the respective locus. These IGH and variant rearrangements may occur in combination in "double hit" and "triple hit" lymphomas. The IGL break apart FISH probe allows for definitive identification involving the rearrangement of the immunoglobulin light chain locus (IGL) located at chromosome band 22q11.22 in suspension cultures and FFPE sections. This probe is useful for identifying variant translocations and for identifying rearrangements in complex karyotypes.

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Price: $897

• Detect genetic cause of delayed puberty
• Screen fertility issues linked to genetics
• Assess hormone development and smell loss

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Price: $790

Description: The KMT2A (lysine methyltransferase 2A) gene, previously known as the MLL gene, on chromosome 11q23.3 encodes for a histone methyltransferase, which functions as an epigenetic regulator of transcription. KMT2A FISH (fluorescence in situ hybridization) testing is used to detect rearrangements in the KMT2A gene in patients with acute myeloid leukemia (AML) or acute lymphoblastic leukemia (ALL), and in a small subset of patients with myelodysplastic neoplasms (MDS). KMT2A rearrangements in acute leukemia are associated with a poor outcome. However, recent studies have shown that the prognosis is dependent on the fusion partner and cell lineage origin. In addition, both adults and pediatric patients with KMT2A gene rearrangements can now benefit from a recent FDA-approved menin inhibitor therapy, particularly in cases with relapsed and refractory acute leukemia. KMT2A FISH testing is used in conjunction with other clinical and histopathological tests. It is not intended to be used as a stand-alone diagnostic.

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Price: $790

Description: This FISH (fluorescence in situ hybridization) assay is performed using any single probe.

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Price: $842

Description: This FISH (fluorescence in situ hybridization) assay is performed using any combination of two probes.

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Price: $1537

Description: This FISH (fluorescence in situ hybridization) assay is performed using any combination of three probes.

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Price: $2232

Description: Chromosome 6q deletion is a frequent abnormality in lymphoid malignancies including acute lymphoblastic leukemia (ALL), chronic lymphoid disorders (CLL) and small lymphocytic lymphoma (SLL), non-Hodgkin lymphoma, and multiple myeloma. It may be the sole clonal abnormality in as many as 30% of cases. Deletions may be small and difficult to resolve using conventional chromosome analysis. Deletion of the region 6q21 to 6q23 (SEC63/MYB) may be associated with loss of recessive tumor suppressor gene and may be an initial step in leukemogenesis. In CLL/SLL, patients with 6q deletions often have higher white blood cell counts and more extensive lymphadenopathy. Deletions in the 6q21-q23 region occur in approximately 7% of CLL/SLL patients.

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Price: $1206

Description: This fluorescence in situ hybridization (FISH) assay detects the t(11;8) translocation that results in the BIRC3(API2)/MALT1fusion gene. The results of this test may aid in the diagnosis of extranodal marginal zone lymphoma of mucosa‐associated lymphoid tissue (MALT lymphoma).MALT lymphomas-a subtype of marginal zone lymphomas-originate in marginal zone B cells and account for 5% to 8% of B-cell lymphomas [1]. The genetic abnormalities associated with MALT lymphoma include the following: t(11;18) that results in the BIRC3/MALT1fusion gene, t(14;18) that results in the IGH/MALT1 rearrangement, t(1;14) that results in the IGH/BCL10 rearrangement, and t(3;14) that results in the IGH/FOXP1 fusion gene [2]. The translocations involving MALT1 occur in 20% to 30% of patients with MALT lymphomas [3]. Detecting those translocations may help differentiate MALT lymphomas from other low-grade lymphomas [1].The BIRC3/MALT1 fusion gene is the most common genetic abnormality of MALT lymphomas and is often detected in the stomach (24%) and the lungs (40%) [1]. In patients with gastric MALT lymphomas, chronic Helicobacter pylori infection contributes to the pathogenesis. The presence of the BIRC3/MALT1 fusion gene is associated with resistance to H pylori eradication therapy and disease dissemination [1,2]. Therefore, a FISH or polymerase chain reaction (PCR) test is recommended for detecting the BIRC3/MALT1 fusion gene in patients with gastric MALT lymphomas [2].A combination of genetic techniques is often involved in identifying genetic abnormalities. Because FISH is limited to probing specific chromosomal regions, it does not replace conventional cytogenetic analysis or chromosomal microarray for screening unknown abnormalities.The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.References1. Naresh KN, et al. B-cell lymphoid proliferations and lymphomas. In: WHO Classification of Tumours Editorial Board. The World Health Organization Classification of Haematolymphoid Tumours. 5 Beta V2 ed. IARC Press; 2022:chap 4. Accessed June 12, 2023. https://tumourclassification.iarc.who.int2. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). B-cell lymphomas. Version 5.2023. Updated July 7, 2023. https://www.nccn.org3. Streubel B, et al. Leukemia. 2004;18(10):1722-1726.

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Price: $1211

Description: This fluorescence in situ hybridization (FISH) assay uses a break-apart probe to detect the MALT1 translocation. The results of this test may aid in the diagnosis of extranodal marginal zone lymphoma of mucosa‐associated lymphoid tissue (MALT lymphoma).MALT lymphomas-a subtype of marginal zone lymphomas-originate in marginal zone B cells and account for 5% to 8% of B-cell lymphomas [1]. The genetic abnormalities associated with MALT lymphoma include the following: t(11;18) that results in the BIRC3/MALT1 fusion gene, t(14;18) that results in the IGH/MALT1 rearrangement, t(1;14) that results in the IGH/BCL10 rearrangement, and t(3;14) that results in the IGH/FOXP1 rearrangement [2]. The translocations involving MALT1 occur in 20% to 30% of patients with MALT lymphomas [3]. Detecting those translocations may help differentiate MALT lymphomas from other low-grade lymphomas [1].The BIRC3/MALT1 fusion gene is the most common genetic abnormality of MALT lymphomas and is often detected in the stomach (24%) and the lungs (40%) [1]. In patients with gastric MALT lymphomas, chronic Helicobacter pylori infection contributes to the pathogenesis. The presence of the BIR3/MALT1 fusion gene is associated with resistance to H pylori eradication therapy and disease dissemination [1,2]. Therefore, a FISH or polymerase chain reaction (PCR) test is recommended for detecting the BIRC3/MALT1 fusion gene in patients with gastric MALT lymphomas [2].A combination of genetic techniques is often involved in identifying genetic abnormalities. Because FISH is limited to probing specific chromosomal regions, it does not replace conventional cytogenetic analysis or chromosomal microarray for screening unknown abnormalities.The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.References1. Naresh KN, et al. B-cell lymphoid proliferations and lymphomas. In: WHO Classification of Tumours Editorial Board. The World Health Organization Classification of Haematolymphoid Tumours. 5 Beta V2 ed. IARC Press; 2022:chap 4. Accessed June 12, 2023. https://tumourclassification.iarc.who.int2. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). B-cell lymphomas. Version 5.2023. Updated July 7, 2023. https://www.nccn.org3. Streubel B, et al. Leukemia. 2004;18(10):1722-1726.

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Price: $1211

Description: This fluorescence in situ hybridization (FISH) assay uses a break-apart probe to detect the MALT1 translocation with reflex to FISH for the BIRC3(API2)/MALT1 fusion gene. The results of this test may aid in the diagnosis of extranodal marginal zone lymphoma of mucosa‐associated lymphoid tissue (MALT lymphoma).MALT lymphomas-a subtype of marginal zone lymphomas-originate in marginal zone B cells and account for 5% to 8% of B-cell lymphomas [1]. The genetic abnormalities associated with MALT lymphoma include the following: t(11;18) that results in the BIRC3/MALT1 fusion gene, t(14;18) that results in the IGH/MALT1 rearrangement, t(1;14) that results in the IGH/BCL10 rearrangement, and t(3;14) that results in the IGH/FOXP1 fusion gene [2]. The translocations involving MALT1 occur in 20% to 30% of patients with MALT lymphomas [3]. Detecting those translocations may help differentiate MALT lymphomas from other low-grade lymphomas [1].The BIRC3/MALT1 fusion gene is the most common genetic abnormality of MALT lymphomas and is often detected in the stomach (24%) and the lungs (40%) [1]. In patients with gastric MALT lymphomas, chronic Helicobacter pylori infection contributes to the pathogenesis. The presence of the BIRC3/MALT1 fusion gene is associated with resistance to H pylori eradication therapy and disease dissemination [1,2]. Therefore, a FISH or polymerase chain reaction (PCR) test is recommended for detecting the BIRC3/MALT1 fusion gene in patients with gastric MALT lymphomas [2].A combination of genetic techniques is often involved in identifying genetic abnormalities. Because FISH is limited to probing specific chromosomal regions, it does not replace conventional cytogenetic analysis or chromosomal microarray for screening unknown abnormalities.The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.References1. Naresh KN, et al. B-cell lymphoid proliferations and lymphomas. In: WHO Classification of Tumours Editorial Board. The World Health Organization Classification of Haematolymphoid Tumours. 5 Beta V2 ed. IARC Press; 2022:chap 4. Accessed June 12, 2023. https://tumourclassification.iarc.who.int2. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). B-cell lymphomas. Version 5.2023. Updated July 7, 2023. https://www.nccn.org3. Streubel B, et al. Leukemia. 2004;18(10):1722-1726.

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Price: $1211

Description: The differential morphological diagnosis of soft tissue tumors is often complex, including benign versus malignant and sarcoma versus other neoplasms. The dual color MDM2/CEP12 probe set is used to evaluate cultured cells and interphase cells from FFPE for relative gain/ amplification of the MDM2 (transformed mouse 3T3 cell double minute, p53 binding protein) gene at band 12q15. MDM2 amplification may be found in a number of cancers, such as osteosarcomas, esophageal carcinomas, and other soft tissue derived tumors. MDM2 is implicated in a number of cancers due to its relationship with the p53 tumor suppressor gene. As a ubiquitin-protein ligase that promotes p53 degradation, overexpression of the MDM2 gene can contribute to the oncogenesis. Liposarcomas often have complex karyotypes, including large ring chromosomes and giant chromosomes. Molecular characterization using FISH probes is especially useful in differentiating between benign lipomas which are disomic for MDM2 and well differentiated liposarcoma and dedifferentiated liposarcoma which exhibit MDM2 gain/amplification.

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Price: $897

Description: Prognostic investigation in patients with myelodysplasia or other myeloid malignancies. Among the patients with myelodysplastic syndromes (MDS), 45-50% have a least one chromosome rearrangement, the most common of which can be detected using this fluorescence in situ hydridization (FISH) panel (-5/5q-,-7/7q-,+8,20q-). This panel of FISH probes can increase the detection rate of chromosome abnormalities at diagnosis and aid in follow-up testing for clinically significant chromosome abnormalities in MDS. The identification of the specific chromosome regions involved in a patient's disease may play a significant role in treatment decisions as MDS targeted therapies are developed.

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Price: $2153

Description: The proto-oncogene MET (c-MET) product is the hepatocyte growth factor receptor and encodes tyrosine-kinase activity. Overexpression of MET has been observed in variety of neoplasms such as kidney, lung, head and neck, ovary, breast, thyroid, brain, stomach, pancreas and colon. MET gene amplification, detected by FISH, has been associated with an unfavorable prognosis in non-small cell lung cancer (NSCLC) and resistance to EGFR inhibitors.

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Price: $915

Description: This test uses fluorescence in situ hybridization (FISH) to detect microdeletions in chromosome 17p13.3 in individuals with clinically suspected Miller-Dieker syndrome (MDS). MDS is a developmental disorder characterized by distinct facial features along with a combination of neurologic findings, including "classic lissencephaly" (or smooth brain), seizures, developmental delay, and intellectual disability [1].Individuals with MDS may also have abnormalities in the heart and kidneys as well as omphalocele. Prognosis for MDS is poor; most children with MDS die before 2 years of age [1,2].This test detects the loss of PAFAH1B1, one of the genes that are associated with the clinical manifestations of MDS. Since similar clinical syndromes can be caused by pathogenic variants in PAFAH1B1, tests such as chromosomal microarray and gene sequencing may find abnormalities even if FISH does not.The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.References1. Brock S, et al. PAFAH1B1-related lissencephaly/subcortical band heterotopia. In: Adam MP, et al., ed. GeneReviews®. University of Washington; March 3, 2009. Accessed September 30, 2021. https://www.ncbi.nlm.nih.gov/books/NBK5189 2. Blazejewski SM, et al. Front Genet. 2018;9:80.

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Price: $790

Description: Chromosomal abnormalities are detected in 80-85% of myeloma patients. One or more extra copies of 1q21 has been associated with poor prognosis in patients with newly diagnosed myeloma, whether as a sole abnormality or in combination with other nonrandom abnormalities. Prognostic factors such as this are helpful to clinicians in determining therapy and predicting long-term survival.

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Price: $825

Description: The FGFR3/IGH translocation, t(4;14), provides important prognostic information in patients with plasma cell myeloma.

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Price: $825

Description: The IGH-MAFB probe set is used to detect the t(14;20)(q32;q12) in patients with high-risk plasma cell myeloma (PCM). This translocation is strongly associated with del(13q), hypodiploidy, and gain of 1q. However, patients with t(14;20) and monoclonal gammopathy, MGUS, or smoldering PCM, may have stable disease for years before progressing.

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Price: $825

Description: The IGH/MAF translocation, t(14;16), provides important prognostic information in patients with plasma cell myeloma.

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Price: $825

Description: Disruption of the human entropic virus integration site (EVI1 or MECOM) gene located at chromosome band 3q26.2 is associated with myeloid neoplasms and is indicative of a poor prognosis. EVI1 rearrangements are especially frequent in myeloid blast crisis that evolves through tyrosine kinase inhibitors. It has been associated with dysplasia of megakaryocytes and alters differentiation of other myeloid cells. Associated rearrangements include inv(3)(q21q26), t(3;3)q21;q26), t(3;21)(q26;q22) and t(3;12)(q26;p13).

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Price: $1072

Description: Plasma Cell Myeloma (PCM) is characterized by the proliferation of malignant monoclonal plasma cells in the bone marrow. Hyperdiploidy with gains of odd numbered chromosomes, including 9, 11, and 15, has been associated with a more favorable outcome in myeloma patients. This test replaces FISH, Multiple Myeloma (5, 9, 15), which is no longer available.

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Price: $1163

Description: Plasma cell myeloma is characterized by the proliferation of malignant monoclonal plasma cells in the bone marrow. This FISH panel is designed for clinical risk classification. Initial FISH testing is performed to detect deletion of TP53 (17p), rearrangements of IGH (14q32), rearrangements of MYC, gain of 1q, deletion of 1p, deletion 13q/monosomy 13, and gain (trisomy) of chromosome 9, 11, and 15 (for hyperdiploidy). When IGH rearrangement is positive, FISH for the specific IGH rearrangements t(11;14), t(4;14), t(14;16), t(14;20) will be performed.

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Price: $7787

Description: This FISH panel includes probes that target the PDGFRA (4q12), PDGFRB (5q33.1) and FGFR1 (8p11-12) loci. The probes included in this panel are constructed using the break apart strategy (fusion signal indicates an intact locus). This allows detection of rearrangements of PDGFRA, PDGFRB, and FGFR1 that result from translocations involving various chromosome regions (usually tyrosine kinase coding genes). Fusion of these receptors with a tyrosine kinase coding gene leads to kinase activation.Rearrangements of PDGFRA, PDGFRB, and FGFR1 are found in a rare group of stem cell myeloid and lymphoid neoplasms that have in common the presence of eosinophilia and the involvement of genes that code for a tyrosine kinase. As such, detection of these rearrangements will help to properly diagnose and follow up of these patients. Furthermore, patients with activated tyrosine kinases are good candidates for tyrosine kinase inhibitors.

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Price: $2606

Description: Chromosomal rearrangements of the BCL6 gene located at 3q27 are found in B-cell non-Hodgkin lymphomas including diffuse large cell lymphoma (DLCL),follicular lymphoma (FL) and marginal zone B-cell lymphoma (MZBCL). DLCL is an aggressive disease that usually responds well to multiagent chemotherapy. Up to 30% of DLCL demonstrate recurrent rearrangements involving the BCL6 gene.

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Price: $825

Description: This fluorescence in situ hybridization (FISH) assay detects MYCN gene amplification and may aid in the risk stratification of neuroblastomas.Neuroblastomas occur predominantly in children and are the most common malignancy in children under 1 year old [1]. Because neuroblastomas are heterogeneous in nature, the treatment decisions are based on risk stratification, which takes into account a patient's age, disease stage, tumor histology, DNA ploidy, MYCN gene amplification status, and segmental chromosome aberration (SCA) [2].Amplification of the MYCN gene in neuroblastoma is generally associated with advanced tumor stage and unfavorable prognosis. Approximately 20% of all neuroblastoma tumors and 40% of high-stage tumors have MYCN amplification [3]. In patients with low-stage neuroblastomas, amplification of the MYCN gene correlates with lower overall survival and lower event-free survival [4]. In patients with stage M (metastatic) and MS (metastatic, special) neuroblastomas, amplification of the MYCN gene correlates with poor outcomes despite age [2]. However, MYCN gene amplification does not have prognostic value in patients over 18 months of age with stage M disease because of the overall poor outcomes [2].The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.References1. Eisenhofer G. Monoamine-producing tumors. In: Rifai R, et al. eds. Tietz Textbook of Laboratory Medicine. 7th ed. Elsevier Inc; 2022.2. Irwin MS, et al. J Clin Oncol. 2021;39(29):3229-3241. 3. Marrano P, et al. Genes Chromosomes Cancer. 2017;56(1):28-41.4. Bagatell R, et al. J Clin Oncol. 2009;27(3):365-370.

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Price: $809

Description: Oligodendroglioma tumors exhibit simultaneous deletions of 1p and 19q in two thirds of cases. These deletions have been associated with a favorable response to chemotherapy with long survival.

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Price: $1004

Description: This fluorescence in situ hybridization (FISH) assay detects deletion of the TP53 gene region in chromosome 17p13.1. The results of this test may aid in the prognostic assessment and treatment selection for chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).The most common genetic abnormalities of CLL/SLL are del(13q), del(11q), trisomy 12, and del (17p). At least one of these 4 genetic abnormalities can be detected with FISH in >80% of patients with CLL/SLL [1]. Evaluation of these frequent genetic abnormalities is recommended for the investigation of prognosis [2] and may inform treatment decisions [3].Del(17p) can be detected with FISH in 7% of patients with CLL/SLL and confers unfavorable prognosis [1]. Del(17p) results in the loss of the TP53 gene and can occur concurrently with mutations in the remaining TP53 allele. The abnormalities of the TP53 gene are the strongest genetic predictor of prognosis and treatment outcome and may be present before therapy or emerge after therapy [1,2]. Therefore, testing for both the deletion and mutation of the TP53 gene is recommended before initiation of the therapy to inform therapy selection and at progression in patients without previously identified TP53 abnormalities [1,2].A combination of genetic techniques is often involved in identifying genetic abnormalities. FISH testing is complementary to conventional cytogenetic analysis (karyotyping) and can be used to detect common cytogenetic abnormalities. However, because FISH is limited to probing specific chromosomal regions, it does not replace conventional cytogenetic analysis or chromosomal microarray for screening unknown abnormalities.The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.References1. Dohner H, et al. N Engl J Med. 2000;343(26):1910-1916.2. Naresh KN, et al. B-cell lymphoid proliferations and lymphomas. In: WHO Classification of Tumours Editorial Board. The World Health Organization Classification of Haematolymphoid Tumours. 5 Beta V2 ed. IARC Press; 2022:chap 4. Accessed June 16, 2023. https://tumourclassification.iarc.who.int3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®). Chronic lymphocytic leukemia/small lymphocytic lymphoma. Version 3.2023. Updated June 12, 2023. https://www.nccn.org

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Price: $1206

Description: FISH testing with the PDGFRB probe allows detection of translocations involving PDGFRB and another chromosome region (usually a tyrosine kinase coding gene). Fusion of PDGFRB with a tyrosine kinase coding gene leads to kinase activation.

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Price: $825

Description: Philadelphia chromosome (Ph)-like acute lymphoblastic leukemia (ALL), also referred to as a BCR-ABL1-like ALL, is a high-risk subset with a gene expression profile that shares significant overlap with that of Ph-positive (Ph+) ALL and is suggestive of active kinase signaling. It exhibits adverse clinical features, confers poor prognosis and harbors a diverse range of genetic alterations that active cytokine receptors genes and kinase signaling pathways making it amenable to treatment with tyrosine kinase inhibitor (TKI) therapy. This FISH panel has been designed to detect ABL1, ABL2 and PDGFRB rearrangements associated with the BCR-ABL1-like B-ALL (or Ph-like B-ALL) with ABL class fusions. Diagnosis of BCR-ABL1-like B-ALL patients with ABL1, ABL2 and PDGFRB rearrangements, will enable incorporation of TKI much earlier in the course of treatment as well as selection of patients eligible for future therapy trials.

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Price: $2182

• Detect chromosome 15 genetic changes
• Screen for developmental delay causes
• Assess family genetic health history

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Price: $790

Description: This fluorescence in situ hybridization (FISH) prenatal screening test is used for numerical abnormalities of chromosomes X, Y, 13, 18, and 21 in amniotic fluid and chorionic villus samples. Since this is a screening test, the results MUST be evaluated in conjunction with a standard chromosome study or a chromosomal microarray (CMA) study. Medical decisions should not be based solely on FISH screen results. The American College of Medical Genetics recommends that irreversible therapeutic action should not be taken based on the results of FISH analysis alone (Am. J. Hum. Genet. 53: 526-527, 1993).

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Price: $1009