BRAF Mutation Assay

BRAF V600 Mutation Detection

Clinical Significance:
BRAF V600 mutation analysis is useful in determining patient eligibility for targeted EGFR inhibitor therapy for metastatic colorectal carcinoma and for Lynch syndrome reflex testing (in colorectal carcinomas).

https://www.nccn.org/professionals/physician_gls/pdf/colon.pdf

Specimen Requirements and Collection:
Formalin fixed tissue containing a sufficient amount of tumor (generally at least several mm of tumor tissue submitted in the tissue block).  The BRAF V600 test utilized by our laboratory will detect mutations that constitute at least 10% of the DNA sample population.

Methodology:
DNA isolation and extraction, library prep, and next-generation sequencing (NGS) for hotspot mutations BRAF exon 15

Forms:
Molecular Pathology requisition form

Transport:
Send formalin-fixed, paraffin-embedded (FFPE) tissue and cell block containing tumor at room temperature.  Also acceptable 10-unstained, 4-5 micron slides with 1 post H&E.  Please include a surgical pathology report

Unacceptable specimen:
Specimens fixed in alternative fixatives or metal fixatives (ex. B-plus).  Decalcified specimens.

Reference Range:
BRAF V600 mutation not detected = negative result
BRAF V600 mutation detected = positive result

CPT codes:
88381, 81210, G0452

Test reported:
Results are reported within 7-10 days