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
