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IDH1/IDH2 Mutation Analysis

Test Number 481484
Test number copied
CPT

81120; 81121; 88381
Synonyms
  • IDH1
  • IDH2
  • Isocitrate dehydrogenase 1 and 2
  • NADP+

Test Details

Methodology

SNaPshot Multiplex PCR (primer extension-based method)

Result Turnaround Time

5 - 7 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Related Documents

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 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.

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

References

Clark O, Yen K, Mellinghoff IK. Molecular Pathways: Isocitrate dehydrogenase mutations in cancer. Clin Cancer Res. 2016 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
US Food & Drug Administration. FDA granted regular approval to enasidenib for the treatment of relapsed or refractory AML. Approved Drugs Web site: https://www.fda.gov/Drugs/InformationonDrugs/ApprovedDrugs/ucm569482.htm. Accessed February 2019.
US Food & Drug Adminstration. Hematology/Oncology (Cancer) Approvals & Safety Notifications. Approved Drugs Web site: https://www.fda.gov/drugs/resources-information-approved-drugs/hematologyoncology-cancer-approvals-safety-notifications. Accessed July 2019.
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

Specimen Requirements

Specimen

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

Volume

3 to 5 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 5µm and one matching H&E slide, or three unstained slides at 5µm. 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, tan-top (K2-EDTA) tube, or pink-top (K2-EDTA) 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

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
481484 IDH1/IDH2 Mutation Analysis 95772-0 481485 IDH1 Result 100022-3
481484 IDH1/IDH2 Mutation Analysis 95772-0 481486 IDH1 Nuc Change 48004-6
481484 IDH1/IDH2 Mutation Analysis 95772-0 481487 IDH1 Amino Acid Change 48005-3
481484 IDH1/IDH2 Mutation Analysis 95772-0 481488 IDH2 Result 50397-9
481484 IDH1/IDH2 Mutation Analysis 95772-0 481489 IDH2 Nuc Change 48004-6
481484 IDH1/IDH2 Mutation Analysis 95772-0 481490 IDH2 Amino Acid Change 48005-3
481484 IDH1/IDH2 Mutation Analysis 95772-0 481491 Indication 42349-1
481484 IDH1/IDH2 Mutation Analysis 95772-0 481492 Location N/A
481484 IDH1/IDH2 Mutation Analysis 95772-0 481493 Specimen Type 31208-2
481484 IDH1/IDH2 Mutation Analysis 95772-0 481494 Block ID 57723-9
481484 IDH1/IDH2 Mutation Analysis 95772-0 481495 Background 8251-1
481484 IDH1/IDH2 Mutation Analysis 95772-0 481979 Method 49549-9
481484 IDH1/IDH2 Mutation Analysis 95772-0 481497 References 75608-0
481484 IDH1/IDH2 Mutation Analysis 95772-0 481498 Director Review 72486-4
481484 IDH1/IDH2 Mutation Analysis 95772-0 480903 Microdissection Performed 8100-0
Order Code481484
Order Code NameIDH1/IDH2 Mutation Analysis
Order Loinc95772-0
Result Code481485
Result Code NameIDH1 Result
UofM
Result LOINC100022-3
Order Code481484
Order Code NameIDH1/IDH2 Mutation Analysis
Order Loinc95772-0
Result Code481486
Result Code NameIDH1 Nuc Change
UofM
Result LOINC48004-6
Order Code481484
Order Code NameIDH1/IDH2 Mutation Analysis
Order Loinc95772-0
Result Code481487
Result Code NameIDH1 Amino Acid Change
UofM
Result LOINC48005-3
Order Code481484
Order Code NameIDH1/IDH2 Mutation Analysis
Order Loinc95772-0
Result Code481488
Result Code NameIDH2 Result
UofM
Result LOINC50397-9
Order Code481484
Order Code NameIDH1/IDH2 Mutation Analysis
Order Loinc95772-0
Result Code481489
Result Code NameIDH2 Nuc Change
UofM
Result LOINC48004-6
Order Code481484
Order Code NameIDH1/IDH2 Mutation Analysis
Order Loinc95772-0
Result Code481490
Result Code NameIDH2 Amino Acid Change
UofM
Result LOINC48005-3
Order Code481484
Order Code NameIDH1/IDH2 Mutation Analysis
Order Loinc95772-0
Result Code481491
Result Code NameIndication
UofM
Result LOINC42349-1
Order Code481484
Order Code NameIDH1/IDH2 Mutation Analysis
Order Loinc95772-0
Result Code481492
Result Code NameLocation
UofM
Result LOINCN/A
Order Code481484
Order Code NameIDH1/IDH2 Mutation Analysis
Order Loinc95772-0
Result Code481493
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code481484
Order Code NameIDH1/IDH2 Mutation Analysis
Order Loinc95772-0
Result Code481494
Result Code NameBlock ID
UofM
Result LOINC57723-9
Order Code481484
Order Code NameIDH1/IDH2 Mutation Analysis
Order Loinc95772-0
Result Code481495
Result Code NameBackground
UofM
Result LOINC8251-1
Order Code481484
Order Code NameIDH1/IDH2 Mutation Analysis
Order Loinc95772-0
Result Code481979
Result Code NameMethod
UofM
Result LOINC49549-9
Order Code481484
Order Code NameIDH1/IDH2 Mutation Analysis
Order Loinc95772-0
Result Code481497
Result Code NameReferences
UofM
Result LOINC75608-0
Order Code481484
Order Code NameIDH1/IDH2 Mutation Analysis
Order Loinc95772-0
Result Code481498
Result Code NameDirector Review
UofM
Result LOINC72486-4
Order Code481484
Order Code NameIDH1/IDH2 Mutation Analysis
Order Loinc95772-0
Result Code480903
Result Code NameMicrodissection Performed
UofM
Result LOINC8100-0