Solid Tumors

The THxID® BRAF Mutation Analysis assay is for the qualitative detection of the BRAF V600E and V600K mutations in DNA samples extracted from formalin-fixed paraffin embedded (FFPE) melanoma tissue. It is intended to be used as an aid in selecting melanoma patients whose tumors carry the BRAF V600E mutation for treatment with dabrafenib, and as an aid in selecting melanoma patients whose tumors carry the BRAF V600E or V600K mutation for treatment with trametinib.
THXID® is a registered trademark of bioMerieux.

disease state indication(s)
Melanoma

clinical use
Predictive BRAF is a serine/threonine protein kinase that is a component of the MAP kinase (MAPK) signal transduction pathway. Mutations in the BRAF gene have been reported in a wide range of neoplasms, but are particularly prevalent in cases of melanoma, more than half of which have been found to contain a somatic BRAF variant (with some variability depending upon primary anatomic site). The most common mutation by far (accounting for about 75%) is the c.1799T>A; p.V600E, while a related dinucleotide change c.1798_1799deiGTinsM; p.V600K accounts for an additional 11%. Several small molecule inhibitors have been developed that specifically target mutated BRAF or the downstream MEK protein (such as vemurafenib, dabrafenb, and trametinib). These agents have been FDA-approved and are NCCN-recommended for certain melanoma patients based upon clinical trial data demonstrating improved clinical outcomes.

methodology/product platform
Polymerase chain reaction (PCR)

specimen type and requirements
Preferred: One (1) or two (2) formalin-fixed, paraffin-embedded (FFPE) blocks containing tumor tissue from most recent surgery or biopsy.
Acceptable Alternative: Two (2) unstained slides at 2×5 µm thickness with at least 20 mm2 tumor surface area, with accompanying H&E slide. For smaller tumor surface areas, please contact Genoptix for number of sections needed.
Unacceptable: Specimens preserved in alternative (non-formalin) fixatives, decalcified specimens, fresh or frozen tissue.
Note: Use refrigerated cold pack for transport. Make sure cold pack is not in direct contact with specimen.
DO NOT FREEZE.

turnaround time
Global (TC & PC): 7 days

cpt code(s)
81210 (x1)

medicare moldx cpt code
Not applicable

regulatory classification
FDA approved/cleared

ordering option
Global (TC & PC)