Isocitrate Dehydrogenase 1 and 2 (IDH1/IDH2) Mutation Analysis
Also known as: IDH, Oncomine Dx Target Test, Acute Myeloid Leukemia (AML)
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.
Methodology
Sanger
Biomarkers
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
3 mL
Container
EDTA (lavender‑top) tube