IDH1 (R132) and IDH2 (R140 and R172) Quantitative Detection, Droplet Digital PCR, Varies
Use
This test is useful for detecting IDH1 R132 and IDH2 R140 and R172 mutations in patients with acute myeloid leukemia (AML) at the time of diagnosis to guide targeted therapy. It can also be used for monitoring minimal residual disease during the clinical and therapeutic course. This highly sensitive quantitative assay detects 6 mutations in IDH1 and 10 mutations in IDH2, providing crucial information for the treatment of AML.
Special Instructions
Not provided.
Limitations
The assay does not detect IDH1 or IDH2 variants outside of the 16 specific mutations targeted. It is not FDA approved but developed according to CLIA requirements. Interassay variability may occur, and result changes should not be considered significant if they differ by less than 0.5 log (3.16-folds). The test may not be suitable for identifying de novo mutations outside the provided mutation list.
New York Approved
Methodology
PCR-based (ddPCR)
Biomarkers
IDH1, IDH2
Gene
LOINC Codes
- 95772-0 - IDH1 + IDH2 Mut Anl Bld/T
- 31208-2 - Specimen source
- 69047-9 - Geneticist review
- 18771-6 - Provider signing name
Result Turnaround Time
4-8 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4mL
Minimum Volume
4mL
Container
Lavender top (EDTA); Yellow top (ACD-B) or green top (heparin) acceptable
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Label specimen as blood.
Causes for Rejection
Gross hemolysis; Moderately to severely clotted
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 14 days |
| Frozen | preferred |