Test Name
BRAF V600 Mutation Analysis
Test Code
M BRAF
Synonyms
EGFR inhibitor response
Associations
Colorectal cancer (CRC), hereditary non-polyposis colon cancer (HNPCC), metastatic melanoma, papillary thyroid carcinoma;
BRAF Mutation in Melanoma
The FDA has cleared Zelboraf™ (Vemurafenib) for the treatment of
CPT Codes
81210
Turnaround Time
10 days
Specimen Requirements
Formalin Fixed Paraffin Embedded tissue block 3 slides (3-5 uM) per marker on adhesion glass NOTE: Include a surgical pathology report with the sample if sending a block and/or slides 5.0 mL (min. 3.0 mL) whole blood EDTA, Sodium Heparin or ACD 3.0 mL (min. 1.0 mL) bone marrow EDTA, Sodium Heparin or ACD
Specimen Stability
Indefinite at ambient temperature (18-25°C) Whole blood and Bone Marrow stable at 18-25°C for 72 hours or 4°C for up to 7 days
Storage & Handling
Ship ambient. Protect from extreme temperature with an ice pack. Separate ice pack from specimen
Causes for Rejections
Improper specimen labeling; Insufficient sample volume; Clotted specimen; Specimen older than 7 days
Description
Utilized as an independent predictor of colorectal cancer (CRC) patient responsiveness to EGFR inhibitor therapy and to assist with the differentiation of microsatellite instability high (MSI-H) hereditary non-polyposis colon cancer (HNPCC) from sporadic
References
- Tol J et al. (2009). BRAF mutation in metastatic colorectal cancer. NEJM. 361:98-99.
- Di Nicolantonio F et al. (2008). Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J Clin Oncol. 26:5705-5712.
- Loughrey MB et al. (2007). Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Familial Cancer. 6:301-310.
- Nikiforovf Y. (2011). Molecular analysis of thyroid tumors. Mod Pathol.Apr;24 Suppl 2:S34-43.
- Nikiforov Y et al.(2009) Molecular testing for mutations in improving the fine-needle aspiration diagnosis of thyroid nodules. J Clin Endocrinol Metab 94:2092–2098.
