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Genetic Labs

Houston, Texas

Genetic Laboratory
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Medical Genetics Test Details

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BRAF V600 Mutation Analysis - Tumor
Test Information: Indication for Study:

Identification of mutations in codon 600 of the BRAF gene.
Test Details
Test Code: 9002
Special Notes: This test can also be performed on FFPE samples (#9003)

BRAF is commonly mutated and thereby activated in various human cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. BRAF mutations are also found in precancerous lesions, indicating that they occur early in tumorigenesis. The most common mutation(s) of BRAF occur at the valine at residue 600 (V600) within exon 15. These mutations render a tumor resistant to various anti-cancer therapies.

DNA is extracted and used for real-time allelic-specific PCR analysis of BRAF gene that includes codon 600 (mRNA reference sequence: NM_004333.4). This test is designed to detect p.V600E and two other allelic changes at codon 600 (p.V600D and p.V600K) of the BRAF gene.

Technical Limitations:

The limit of the test is approximately 1 mutated cells in a background of 100 total cells (1%).

Results of this test must always be interpreted in the context of relevant clinical and pathological data, and should not be used alone for a diagnosis of malignancy.

Useful Links:
- Atlas of Genetics and Cytogenetics in Oncology and Haematology
- COSMIC

Useful Publications:
- The Utility of BRAF Testing in the Management of Papillary Thyroid Cancer
- New Driver Mutations in Non-Small-Cell Lung Cancer
Technical Information
Methodology: Real-Time PCR
Gene Name: BRAF
Protein Name: B-Raf proto-oncogene serine/threonine-protein kinase
Test Type: Mutation Analysis
Sample & Shipping Information
Test Requisition: Tumor Analysis
Specimen Type: Bone Marrow
Requirements: Draw bone marrow in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) or 2 cc (Infant< 2 years).
Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Specimen should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze.


Specimen Type: Fresh Frozen Tissue
Requirements: 150 mg (0.5-2.0 cm3) Fresh tissue snap frozen at -20C. Store at -20C.
Shipping Conditions: Ship on minimum of 10 lbs. of dry ice in an insulated container by overnight courier.


Specimen Type: Leukemic Blood
Requirements: Draw leukemic blood in a EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) or 2 cc (Infant<2yrs). (White count > 15,000 with at least 20% blasts).
Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Specimen should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze.


Turn Around Time: 5 - 7 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81210 x 1


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