This is a real-time PCR test that detects of mutations in IDH1 at codons R132X and R100Q and at IDH2 codons R140X and R172X. IDH1 and IDH2 are analyzed concurrently.
IDH1/IDH2 Mutation Analysis by PCR
- Molecular
Specimen Requirements
Bone Marrow Aspirate: 2 mL in EDTA tube.
Peripheral Blood: 5 mL in EDTA tube.
H&E slide (required) plus paraffin block.
Cut Slides: H&E slide (required) plus 5-10 unstained slides cut at 5+ microns.
Note on FFPE: Paraffin block is preferred. Do not use zinc fixatives. If submitting slides, please use positively-charged slides and 10% NBF fixative. Block and slide identifiers should be clearly written and match exactly with the specimen ID and specimen labeling as noted on the requisition.
Note: Test is DNA-based. Please select Extract & Hold - DNA if specimen hold service is desired.
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. Please select extract & hold - DNA if specimen hold service is desired. NYS clients please provide date and time of collection.
CPT Code(s)*
81120, 81121
Turnaround time
5 Days
Level of Service
- Global
Integrations
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New York Approved: Yes
Clinical Significance
Mutations in the enzyme isocitrate dehydrogenase 1 (IDH1) and IDH2 genes have been identified in a variety of tumors including central nervous system gliomas, cholangiocarcinoma, acute myeloid leukemia, blast-phase myeloproliferative neoplasms (MPNs) and chronic-phase primary myelofibrosis (PMF). Per professional practice guidelines, testing for IDH mutations has diagnostic and prognostic implications in the workup of gliomas and guides therapy selection in AML. AML patients with IDH mutations may respond to venetoclax-based therapy or IDH inhibitors.
*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.
Biomarkers
DNA Sequencing
| SNVs + Indels | |||||
|---|---|---|---|---|---|
| IDH1 | IDH2 | ||||
Last Updated: January 08, 2026