BRAF V600E Mutation Detection in Hairy Cell Leukemia by Real-Time PCR, Quantitative
Also known as: BRAF HCL
Use
This test is designed to detect the BRAF V600E mutation, a point mutation c.1799T>A in the BRAF gene, using real-time PCR. The mutation changes the amino acid sequence, resulting in p.Val600Glu (V600E), which is present in the majority of classic hairy cell leukemia cases. It helps confirm a diagnosis of hairy cell leukemia and monitor tumor burden.
Special Instructions
Whole blood or bone marrow should be collected in lavender (EDTA) containers. The specimens should be refrigerated and not frozen. Plasma, serum, FFPE tissue blocks/slides, or frozen tissue are unacceptable.
Limitations
Mutations in other locations within the BRAF gene, or mutations in other genes, will not be detected. The test has a limit of detection of 0.2 percent mutant alleles, which corresponds to 0.4 percent heterozygous mutant cells. Results must be interpreted within the clinical context, and should not be used alone for a diagnosis of malignancy. This test is a laboratory developed test and has not been cleared or approved by the FDA.
New York Approved
Methodology
PCR-based (qPCR)
Biomarkers
LOINC Codes
- 85101-4
- 81258-6
- 31208-2
Result Turnaround Time
4-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
1 mL
Container
lavender (EDTA)
Storage Instructions
Refrigerated. Do not freeze.
Causes for Rejection
Plasma, serum, FFPE tissue blocks/slides, or frozen tissue. Specimens collected in anticoagulants other than EDTA or sodium heparin. Clotted or grossly hemolyzed specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |
| Frozen | Unacceptable |