Bi-directional sequencing of the exon 4 mutation hotspot region in the IDH2 gene. Testing is performed on cell-free plasma DNA/RNA to increase sensitivity.
IDH1 or IDH2 mutations are detected in approximately 15-20% of acute myeloid leukemia (AML). Patients with AML and mutations are likely to respond to IDH inhibitors. This test can be used for screening and determining if a bone marrow biopsy is an absolute necessity, as well as monitoring disease status and response to therapy. It can also be used for performing molecular studies when a bone marrow sample is inadequate (dry tap, insufficient quantity, or not viable), or not available. This test should not be used for solid tumors. Tissue-based testing is recommended for solid tumors.
- Peripheral blood: 2 x 6 mL EDTA tubes (total 12 mL) or 10 mL in EDTA tube.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.