Add to Favorites
Alternative Name
IDH1 Liquid Biopsy Testing
Test Description

Bi-directional sequencing of the exon 4 mutation hotspot region in the IDH1 gene. Testing is performed on cell-free plasma DNA/RNA to increase sensitivity.

Clinical Significance

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.

Specimen Requirements
  • Peripheral blood: 2 x 6 mL EDTA tubes (total 12 mL) or 10 mL in EDTA tube.
Storage and Transportation

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.

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.