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Genetic Labs

Houston, Texas

Genetic Laboratory
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Medical Genetics Test Details

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BRAF Mutation Analysis - Tumor
Test Details
Test Code: 9000
Test Includes: Sequence Analysis of codon 600 and 464-469 of the BRAF gene.


Special Notes: This test can also be performed on Fresh Frozen Tissue, Blood, and Bone Marrow (#9001).

Identification of mutations in codon 600 and 464-469 of the BRAF gene.
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 of BRAF is the valine to glutamate mutation at BRAF residue 600 (V600E) induced by the T1799A nucleotide transversion within exon 15 (~80-90%) followed by mutations in codons 464-469 (10%). These mutations render tumor resistance to various anti-cancer therapies.

Technical Limitations:

The sensitivity of detection is approximately 5-10 mutated cells per 100 total cells in the sample (5-10%).

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: Sequence analysis is performed in both forward and reverse directions of codon 600 and 464-469 of the BRAF gene.
Gene Name: BRAF
Protein Name: B-Raf proto-oncogene serine/threonine-protein kinase
Sample & Shipping Information
Test Requisition: Tumor Analysis
Specimen Type: FFPE - Slide(s)
Requirements: 5 unstained 5um FFPE slides containing adequate amounts of tumor to be analyzed with areas of tumor marked. Please include a copy of corresponding surgical pathology report.

Transport Temperature: Ship at ambient temperature (18-25C/64-77F). Protect paraffin tissue from excessive heat. Ship in cooled container during summer months.

Unacceptable Conditions: No tumor in tissue. Frozen specimens and specimens fixed/processed in alternative fixatives.

Stability: Ambient: Indefinitely; Refrigerated: Acceptable.

Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Do not heat or freeze.


Specimen Type: FFPE - Tumor Block
Requirements: Paraffin-embedded, formalin-fixed tissue block containing adequate amounts of tumor to be analyzed with areas of tumor marked. Please include a copy of corresponding surgical pathology report.

Transport Temperature: Ship at ambient temperature (18-25C/64-77F). Protect paraffin tissue from excessive heat. Ship in cooled container during summer months.

Unacceptable Conditions: No tumor in tissue. Frozen specimens and specimens fixed/processed in alternative fixatives.

Stability: Ambient: Indefinitely; Refrigerated: Acceptable.

Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 5 - 7 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81210x1


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