BRAF Gene Mutation Analysis

CPT 81210; 88381

Test Details

Cancer Type

Hairy cell leukemia (HCL), Hematologic malignancies, Lung, Melanoma, Ovarian, Thyroid

Technology Used

Molecular

Turnaround Time

5 - 7 days

Use

BRAF is an important member of the mitogen-activated protein kinase (MAPK) pathway that influences cell proliferation. This test will detect all V600 mutations of the BRAF oncogene frequently found in human cancers, such as melanoma, colorectal cancer, lung cancer, ovarian cancer, thyroid cancer, and hairy cell leukemia, allowing the determination of drug response, aiding the diagnosis and providing prognosis information. More than 90% of mutations are the V600E (c1799T>A) mutation, but other V600 mutations have been reported.

This test can distinquish the following BRAF V600 mutations: V600E, V600E2, V600K, V600D, V600R, V600A, V600G, V600M, V600L.

Special Instructions

Please provide a copy of the pathology report. Direct any questions regarding this test to customer service at 800-345-4363. BRAF testing will be delayed if the pathology report is not received.

Limitations

This assay is able to detect 5% mutation in a background of wild-type DNA.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

SNaPshot Multiplex PCR (primer extension-based method)

Specimen Requirements

Information on collection, storage, and volume

Specimen

Solid tumor: Formalin-fixed, paraffin-embedded (FFPE) tissue blocks or slides; thyroid fine needle aspirate (FNA). Leukemia: whole blood or bone marrow

Volume

FFPE tissue block or four unstained slides and one matching H&E-stained slide at 5 μM; 5 to 10 mL FNA in CytoLyt container; 3 to 5 mL whole blood, 1 to 2 mL bone marrow

Minimum Volume

Two unstained slides and one matching H&E-stained slide at 5 μM. Sample with >4mm2 and greater than or equal to 50% tumor content are preferred; 5 mL FNA; 3 mL blood, 1 mL bone marrow

Container

FFPE tissue block or slides, lavender-top (EDTA) tube, green-top (sodium heparin) tube, yellow-top (ACD-A) tube, FNA in CytoLyt container

Storage Instructions

Maintain specimen at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C. Store FFPE block or slides, FNA in CytoLyt container at room temperature.

Causes for Rejection

Tumor block containing no tumor; broken or stained slides; specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material