Detection of mutations at IDH1 codons R132X and R100Q and at IDH2 codons R140X and R172X is performed using real-time PCR. IDH1 and IDH2 are analyzed concurrently.
This test is available through the Servier-sponsored IDH testing program initiative called IDHNow for AML. A separate test form is required. Please visit the IDHNow for AML page for more information and to download the Test Request Form.
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.
- Bone marrow: 2 mL in EDTA tube.
- Peripheral blood: 5 mL in EDTA tube.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.
5 days