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Alternative Name
IDH1 Mutation Analysis, IDH2 Mutation Analysis
Test Description

Bi-directional sequencing of the exon 4 mutation hotspot regions in both the IDH1 and IDH2 genes. IDH1 and IDH2 are analyzed concurrently. In hematological disease, testing may be performed on plasma to increase sensitivity. For solid tumors, tumor enrichment is performed before extraction.

Clinical Significance

IDH1 or IDH2 mutations are detected in approximately 15-20% of acute myeloid leukemia (AML) and >70% grade II or III brain gliomas. Patients with AML and mutations are likely to have aggressive disease, while mutations in gliomas are associated with better prognosis. Long-term survival after aggressive tumor resection has been reported for patients with IDH1-positive astrocytomas.

Specimen Requirements
  • Peripheral blood: 5 mL in EDTA tube.
  • Bone marrow: 2 mL in EDTA tube.
  • FFPE solid tumor tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Storage and Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.

CPT Code(s)*
81120, 81121
Medicare MolDX CPT Code(s)*
Turnaround Time

7 days

Level of Service

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.