Whilst not an exhaustive list, the table below provides details of the available tests for identifying BRAF mutations. Regarding next generation sequencing; although this isn’t available as a testing kit, for laboratories with sequencing technologies available this is an alternative to the below.
Testa |
Method, instrumentation |
Regulatory status |
Analytical sensitivity LOD |
BRAF mutations detected |
THxIDTM- BRAF1 (bioMérieux, Inc.) |
Real-time PCR, |
FDA2 CE-IVD |
5% mutation level for V600E and K |
V600E and V600K
|
cobas® 4800 BRAF V6003 (Roche Diagnostics) |
Real-time PCR, (closed) |
FDA2 CE-IVD |
5% mutation level for V600E |
V600E (V600K and V600D possibly by cross reactivity) |
therascreen BRAF RGQ PCR Kit4 (QIAGEN) |
Real-time PCR, (open) |
CE-IVD |
1.87% for V600E 4.3% for V600K |
V600E, V600E complex, V600D, V600K, V600R
|
therascreen BRAF Pyro Kit5 (QIAGEN) |
Pyrosequencing, (open) |
CE-IVD |
Not established |
Codon 600: V600A, V600E, V600G, V600M, Codons 464-469: G464E, G464V, G466E, G466V, G469A, G469E, G469V
|
INFINITI BRAF Assay (AutoGenomics, Inc.)6 |
INFINITI Analyzer, INFINITI Plus Analyzer |
CE-IVD |
Not available |
BRAF V600A, V600D, V600E, V600KRM |
FoundationOne CDx (Foundation Medicine, Inc.)7 |
NGS, multiple instruments |
FDA2
|
≤ 2.0% allele fraction for BRAF V600E and K |
BRAF V600E, V600K, plus other genes |
a Not a comprehensive list.
CE-IVD, Conformité Européene In Vitro Diagnostics (devices); FDA, US Food and Drug Administration; LOD, limit of detection; PCR, polymerase chain reaction.