BRAF V600E, K601E and K601Q 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 and malignant melanoma. This assay detects the most frequent missense mutation, V600E, in addition to less frequent mutations of codon 601, namely K601E and K601Q, 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 V600E and 10% for the K601 mutations.
Requisition Code:
BRAF V600E mutation
CPT Code:
81210; G0452 (add 88381 if manual microdissection is needed)
Turn Around Time:
5-7 days
Specimen Requirements:
Paraffin
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
Fresh Tissue
Collect: Approximately 10 mg of fresh tissue in several ml RPMI 1640 or physiological saline.
Storage: Send immediately to lab. Otherwise, blot dry and keep frozen at -20°C or lower.
Remarks: Submit a copy of the Surgical Pathology report.
Transport: See Standard Shipping Procedures
References:
Jo, et al. 2009. Clin Endocrinol 70:139-44
Deng, et al. 2004. Clin Cancer Res 10:191-5
Tol, et al. 2009. NEJM 361:98-9