IDH1/IDH2 Mutation Analysis

CPT: 81120; 81121; 88381
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Test Details


  • IDH1
  • IDH2
  • Isocitrate dehydrogenase 1 and 2
  • NADP+


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.


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 US Food and Drug Administration (FDA).


SNaPshot Multiplex PCR (primer extension-based method)

Specimen Requirements


Whole blood, bone marrow, formalin-fixed, paraffin-embedded (FFPE) tissue block or slides


3 to 7 mL whole blood, 1 to 2 mL bone marrow, four pre-cut unstained slides at 5 micron with one matching H&E reference slide, or formalin-fixed, paraffin-embedded tissue (FFPE) block

Minimum Volume

3 mL whole blood, 1 mL bone marrow, two unstained slides at 5um and one matching H&E slide, or three unstained slides at 5um. Tumor surface area >=4mm2 tumor area and >/= 50% tumor content are preferred


Lavender-top (EDTA) tube, green-top (heparin) tube, yellow-top (ACD) tube, FFPE tissue block and slide container

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

Clinical Information

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 to customer service at 800-345-4363.

Note: This test is not available for New York clients.


Clark O, Yen K, Mellinghoff IK. Molecular Pathways: Isocitrate dehydrogenase mutations in cancer. Clin Cancer Res. 2017 Apr 15;22(8):1837-1842.26819452
Dang L, Yen K, Attar EC. IDH mutations in cancer and progress toward development of targeted therapeutics. Ann Oncol. 2016 Apr;27(4):599-608.27005468
Medeiros BC, Fathi AT, DiNardo CD, Pollyea DA, Chan SM, Swords R. Isocitrate dehydrogenase mutations in myeloid malignancies. Leukemia. 2017 Feb;31(2):272-281.27721426
Ohgaki H, Kleihues P. The definition of primary and secondary glioblastoma. Clin Cancer Res. 2013 Feb 15;19(4):764-772.23209033
Yan H, Parsons DW, Jin G, et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med. 2009 Feb 19;360(8):765-773.19228619

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