Isocitrate Dehydrogenase 1 and 2 (IDH1/IDH2) Mutation Analysis

Casandra

Casandra Test Code QD85645Version 1 (DRAFT)

Performing Lab

Lab Quest DiagnosticsLab Test ID 31547CPT Codes 81120, 81121

Isocitrate Dehydrogenase 1 and 2 (IDH1/IDH2) Mutation Analysis

Also known as: IDH, Oncomine Dx Target Test, Acute Myeloid Leukemia (AML)

Clinical Use

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Use

Gain‑of‑function mutations in IDH1 (exon 4) and IDH2 (exon 4) result in aberrant conversion of α‑ketoglutarate to the oncogenic metabolite 2‑hydroxyglutarate. Such mutations are recurrent in acute myeloid leukemia (AML) and glioma, occurring in approximately 7‑14% for IDH1 and 8‑19% for IDH2 in AML, and are associated with inferior overall survival. The presence of IDH mutations may inform the use of FDA‑approved IDH inhibitors in relapsed or refractory AML.

Special Instructions

Not provided.

Limitations

Analytical sensitivity is approximately 20% mutant allele fraction. Only exon 4 of IDH1 and exon 4 of IDH2 are sequenced. Rare mutations of unknown clinical significance will be accompanied by interpretive comments. Benign or likely benign variants are not reported. Sanger sequencing sensitivity limit and exon coverage may preclude detection of low‑allele‑fraction mutations or mutations outside exon 4.

Test Details