BRAF V600E Mutation Detection in Hairy Cell Leukemia by Real-Time PCR, Quantitative

Also known as: BRAF HCL

Clinical Use

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

Not provided.

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.

Test Details

New York Approved

Methodology

PCR-based (qPCR)

Biomarkers

LOINC Codes

Result Codes

85101-4 - BRAF p.V600E Mar Ql
81258-6 - Sample VAF
31208-2 - Specimen source

Result Turnaround Time

4-10 days

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.