Methodology: PCR

Clinical Significance:
PhenoPath’s real-time PCR assay utilizes allele-specific PCR to detect BRAF V600 mutations, including the V600E BRAF mutation (c.1799T>A) as well as a subset of other less common activating BRAF V600 mutations (such as V600K, V600D, etc); however, these mutations cannot be distinguished by this assay. BRAF V600 mutations occur in a variety of human malignancies, including (but not limited to) subsets of colorectal carcinomas, papillary thyroid carcinomas, melanomas*, gastrointestinal stromal tumors (GIST) that are negative for KIT and PDGFRA mutations, CNS neoplasms, malignant peripheral nerve sheath tumors, Langerhans cell histiocytoses, and Erdheim-Chester disease; and in virtually all cases of hairy cell leukemia. In colorectal carcinomas, the V600E mutation has been associated with a lack of response to epidermal growth factor receptor (EGFR) targeted therapies (cetuximab or panitumumab). When evaluated in conjunction with KRAS/NRAS mutation testing, BRAF V600 mutation analysis may predict response to these therapies. Determination of BRAF mutation status can also be useful in the work-up hereditary non-polyposis colorectal carcinomas (HNPCC), as BRAF V600 mutations are found in non-hereditary/sporadic CRC cases exhibiting microsatellite instability, but not in HNPCC. *For BRAF V600 testing in melanomas, please see BRAF IVD cobas v600.

Organ: Lung

Disease State: Hairy Cell Leukemia

CPT Code(s): 81210; 88381 may apply. The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Turnaround Time: Within 3-6 business days of receipt

Schedule: Tuesday and Friday

Specimen Requirements:
Formalin-fixed, paraffin-embedded (FFPE) tissue block, 10 FFPE tissue slides, or peripheral blood or bone marrow in EDTA or heparin.