IDH1/IDH2 Mutation Analysis

CPT: 81403(x2); 88381
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Test Details

Synonyms

  • IDH1
  • IDH2
  • 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.

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.

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).

Methodology

SNaPshot Multiplex PCR (primer extension-based method)

Specimen Requirements

Specimen

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

Volume

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

Container

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.

References

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

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
481484 IDH1/IDH2 Mutation Analysis 481485 IDH1 Result Pending
481484 IDH1/IDH2 Mutation Analysis 481486 IDH1 Nuc Change Pending
481484 IDH1/IDH2 Mutation Analysis 481487 IDH1 Amino Acid Change Pending
481484 IDH1/IDH2 Mutation Analysis 481488 IDH2 Result Pending
481484 IDH1/IDH2 Mutation Analysis 481489 IDH2 Nuc Change Pending
481484 IDH1/IDH2 Mutation Analysis 481490 IDH2 Amino Acid Change Pending
481484 IDH1/IDH2 Mutation Analysis 481491 Indication 42349-1
481484 IDH1/IDH2 Mutation Analysis 481492 Location N/A
481484 IDH1/IDH2 Mutation Analysis 481493 Specimen Type 31208-2
481484 IDH1/IDH2 Mutation Analysis 481494 Block ID 57723-9
481484 IDH1/IDH2 Mutation Analysis 481495 Background 8251-1
481484 IDH1/IDH2 Mutation Analysis 481496 Method 49549-9
481484 IDH1/IDH2 Mutation Analysis 481497 References 75608-0
481484 IDH1/IDH2 Mutation Analysis 481498 Director Review 72486-4
481484 IDH1/IDH2 Mutation Analysis 480903 Microdissection Performed 8100-0
481484 IDH1/IDH2 Mutation Analysis 481499 IDH1/IDH2 Mutation Analysis N/A

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The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf