BRAF V600 and K601 Mutations

Test Information

Mutations in the BRAF gene have been shown to disrupt the RAS-RAF-MEK signaling pathway in papillary thyroid cancer (PTC), colorectal cancer, melanoma, and other cancers. This assay detects the most frequent missense mutation, V600E, in addition to less frequent mutations of codons 600 and 601, such as V600K, V600R, V600E2 and K601E, among others, using PCR followed by pyrosequencing. These specific mutations are associated with PTC, colorectal cancer and melanomas. The sensitivity cut-off for this assay is approximately 3% mutant for the V600 and 10% for the K601 mutations.

Requisition Code

BRAF mutations (V600 and K601)

CPT Code

81210; G0452-26 (add G88381 if manual dissection is needed)

Turn Around Time

7–10 days

Specimen Requirements

Decalcified specimens are not accepted

Parafin
Collect
Formalin-fixed, paraffin embedded tissues
Storage
Room temperature
Remarks
Submit the paraffin block, 1 H&E with marked location of most abundant tumor (or photocopy of marked H&E) and an approximate % of tumor cells in the area and a copy of the Surgical Pathology report.
Transport
See Standard Shipping Procedures

Cytologic Preparations
Collect:
Cytologic slide
Storage:
Room temperature
Remarks:
Mark the area of interest on the slide and submit a copy of the Cytopathology report.
Transport:
See Standard Shipping Procedures

References

Packham et al., 2009. Implementation of novel pyrosequencing assays to screen for common mutations of BRAF and KRAS in a cohort of sporadic colorectal cancers. Diagn Mol Pathol. 18:62-71.)