Cancer Genetics

Genetic testing can help estimate your chance of developing cancer in your lifetime. It does this by searching for specific changes in your genes, chromosomes, or proteins. These changes are called mutations. Genetic tests are available for breast, ovarian, colon, thyroid, and some other cancers. Genetic testing may help:

  1. Predict your risk of a particular disease
  2. Find if you have genes that may pass increased cancer risk to your children
  3. Manage increased cancer risk by having more regular cancer screening or taking steps to lower risk
  4. Deciding suitable treatment.



The C677T and the A1298C mutations in the methylene tetrahydrofolate reductase (MTHFR) gene correlate with reduced enzyme activity. This test identifies the mutations in MTHFR and RFC genes that are linked to methotrexate toxicity.


TPMT Genotyping Assay is based on PCR sequencing technology to identify TPMT G238, G460 and A719 mutations. This test can help in deciding TPMT dosage as well as predict toxicity.


Oxaliplatin genotyping test is useful in finding out genetic polymorphisms of GSTP1 related to response to 5-FU-oxaliplatin-based chemotherapy for prediction of clinical outcome in advanced colorectal cancer patients.


UGT1A1 gene mutations cause accumulation of SN-38, which may lead to irinotecan-related toxicities (neutropenia, diarrhea). This test identifies important mutations in UGT1A1 responsible for Irinotecan toxicity.


This test identifies changes in the UGT1A1 gene cause Gilbert syndrome. Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia).


EGFR mutation test allows the physician to prescribe the most suitable therapy for a patient with locally advanced or metastatic non-small cell lung cancer as patients with certain EGFR mutations derive significant benefit from gefitinib.


C-KIT assay confirms the diagnosis of Systemic Mastocytosis. KIT mutations represent molecular prognostic marker in AML with inv (16) and t(8;21). This assay from geneOmbio identifies D816V mutation, responsible for Imatinib resistance.


The principle use for this test is the detection of point mutations in the kinase domain of the BCR/ABL fusion transcript leading to imatinib resistance in Philadelphia chromosome-positive leukemias.


This is a mutation detection test for identification of mutations in codon 600 and 464-469 of the BRAF gene. BRAF (V600E) within exon 15 is commonly mutated and thereby activated in various human cancers.


Mutations in KRAS codons 12 and 13 have been associated with lack of response to EGFR-targeted therapies in both CRC and NSCLC patients. This test is used to detect mutations in the KRAS gene.


Mutations in two genes as DPD and TYMS have been linked to severe myelosuppression and death in patients treated with standard doses of 5 Fluorouracil. This assay is useful for identifying at risk for mutation.


This test is used to diagnose polycythemia vera (PV), essential thrombocythemia (ET), and idiopathic myelofibrosis (MF). JAK2 V617F is a gain-of-function mutation that leads to clonal proliferation.


Both ITD and D835Y mutations are found to be more frequent in intermediate cytogentic risk group (ie: normal karyotype). The FLT3 mutation status can be used for a more subtle prognostic definition of the cytogenetic risk group.


This test intended for the detection of CALR mutations in genomic DNA from subjects suspected of myeloproliferative neoplasms. It enables identification of the two major CALR mutations, type 1 and type 2


Non–small-cell lung cancer (NSCLC) is one of the most genomically diverse and deranged of all cancers, creating tremendous challenges for both prevention and treatment strategies.

MPL S505/W515

Somatic mutations of codons 515 and 505 in exon 10 of the “myeloproliferative leukemia virus oncogene” (MPL) represent clonal markers in essential thrombocythemia (ET) and primary myelofibrosis (PMF).


IDH1 and IDH2 mutations are most commonly found in cytogenetically normal AML, in which they may have adverse prognostic significance, and appear to be associated with NPM1 mutations.


NRAS mutations have been implicated in the pathogenesis of different cancers, particularly common in melanoma, hepatocellular carcinoma, myeloid leukemia, and thyroid carcinoma.


This amplification method is used for the detection of cDNA of the BCR-ABL rearrangement, t (9;22) translocation and Philadelphia chromosome. Used for diagnosis and monitoring of cases of CML, AML and ALL.


This amplification method used for the detection and quantification of cDNA of the BCR-ABL rearrangement, t (9;22) translocation and Philadelphia chromosome. This is monitoring assay for CML, AML and ALL cases.

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