IDH1/IDH2 Mutation Analysis
Also known as: IDH1, Abbott RealTime IDH1, Isocitrate dehydrogenase 1 and 2, NADP+
Use
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, 105, and 132 of IDH1, and amino acids 140 and 172 of IDH2.
Special Instructions
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.
Limitations
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.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
5-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 to 5 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube, green-top (heparin) tube, yellow-top (ACD) tube, tan-top (K2-EDTA) tube, or pink-top (K2-EDTA) tube
Storage Instructions
Refrigerate. Maintain FFPE blocks/slides at room temperature.
Causes for Rejection
Specimen does not meet all of the above criteria for sample type, container, minimum volume, collection and storage; unsuitable specimens include but are not limited to: frozen whole blood or marrow; a leaking tube; clotted blood or marrow; a grossly hemolyzed specimen or otherwise visibly degraded; specimen suspected of being contaminated by another specimen; specimen contains suspicious foreign material; no tumor tissue in FFPE block or slides; broken or stained slides
