Laboratory Test Information Guide

Details for BRAF NCCO NGS

Alternate Name(s):  
Laboratory: Molecular Diagnostics
Specimen Type: FFPE
Collection Information: Send blocks to pathology lab for cutting
Test Schedule: Monday to Friday 0800-1600h
Turnaround time from when specimen
is received in testing laboratory:
15 days
Reference Range: See report
Effective Date:  
Revised Date:  
Critical Value: N/A
Interpretive Comments: In patients with advanced malignant melanoma BRAF V600 mutations have been shown to be associated with clinical response to therapies targeting BRAF, such as vemurafenib.(PMID: 2235632) While clinical guidelines for BRAF mutational analysis are evolving, current available guidelines recommend routine testing for BRAF V600 mutations in metastatic melanoma.(PMID:24129426
Special Processing:  
Comments: Patient is outside CCO criteria for funded testing
Method of Analysis: Mutation screening was performed by next generation sequencing (NGS) on the Ion Torrent technology using the Ion PGM™ System (ThermoFisher). Library preparation was performed as per manufacturers instructions using the Ion AmpliSeq™ Cancer Hotspot Panel v2 (ThermoFisher), which screens approximately 2800 COSMIC mutations of 50 oncogenes and tumor suppressor genes, including COSMIC mutations in KRAS (63), NRAS (35) and BRAF (76) and EGFR (123). Only findings in the clinically indicated genes are reported; currently BRAF for melanoma, EGFR for lung cancer, and KRAS, NRAS and BRAF for colon cancer. This assay has been internally validated to meet >99% sensitivity and specificity for mutations that are at 5% mutant allele frequency in the assessed DNA sample. Rarely, mutations are detected at <5% mutant allele frequency and these are confirmed using alternate methodology, including real-time quantitative PCR.
Critical Information Required:  
Storage & Shipment: Deliver to lab at room temperature.
System Codes: 
Referred To:  

Questions? Comments? Contact Laura Gopaul