IDH1/IDH2 Mutation Analysis

Isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) are the most frequently mutated metabolic genes in human cancer. They encode cytosolic and mitochondrial enzymes that catalyze the conversion of isocitrate to a-ketoglutarate (aKG), a key component in metabolic and cellular pathways including the Krebs cycle. IDH1 and IDH2 mutations are found in multiple types of human cancer, including but not limited to, acute myeloid leukemia and gliomas. Identification of IDH mutations can aid in their diagnosis, provide prognostic information and suggest treatment with IDH inhibitors. This assay will detect mutations affecting amino acids 100 and 132 of IDH1 and amino acids 140 and 172 of IDH2.

Please provide a copy of the pathology report. IDH1/2 testing will be delayed if the pathology report is not received. Please direct any questions regarding this test to customer service at 800-345-4363.

In vitro studies indicate that this assay has a sensitivity to detect approximately 5% mutated IDH1/2 in a background of non-mutant DNA. Mutations present at a level below the detection sensitivity or outside the analyzed region of the IDH1 and IDH2 genes will not be detected by this assay.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

SNaPshot Multiplex PCR (primer extension-based method)