BRAF+ melanoma
What makes it different, makes it vulnerable

BRAF mutation testing: the different tests

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,
ABI7500 FastDx (open)

FDA2

CE-IVD

5% mutation level for V600E and K

V600E and V600K

 

cobas® 4800 BRAF V6003

(Roche Diagnostics)

Real-time PCR,
Cobas 4800

(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,
Rotor-Gene Q HDx 5plex HRM instrument

(open)

CE-IVD

1.87% for V600E

4.3% for V600K

V600E, V600E complex, V600D, V600K, V600R

 

therascreen BRAF Pyro Kit5

(QIAGEN)

Pyrosequencing,
Pyromark Q24 System

(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.

  1. THxID™-BRAF [package insert]. Marcy-l’Etoile, France: bioMérieux, Inc.; 2013.
  2. FDA. List of cleared or approved companion diagnostic devices (in vitro and imaging tools). https://www.fda.gov/media/119249/download. Updated August 2, 2019. Accessed August 29, 2019.
  3. Roche Diagnostics. cobas® 4800 BRAF V600 Mutation Test. https://diagnostics.roche.com/global/en/products/params/cobas-4800-braf-v600-mutation-test.html. Accessed August 28, 2019.
  4. QIAGEN. Therascreen BRAF RGQ PCR Kit CE. https://www.qiagen.com/no/shop/detection-solutions/personalized-healthcare/therascreen-braf-rgq-pcr-kit-ce/#productdetails. Accessed August 28, 2019.
  5. QIAGEN. Therascreen BRAF Pyro Kit. The Netherlands. https://www.qiagen.com/ch/shop/detection-solutions/personalized-healthcare/therascreen-braf-pyro-kit/#productdetails. Accessed August 28, 2019.
  6. AutoGenomics, Inc. INFINITI® BRAF Assay. Directional package insert. February 2017. http://www.autogenomics.com/englishpi/EM-34047E(English)-H,PackageInsertforBRAF.pdf. Accessed September 6, 2019.
  7. Foundation Medicine, Inc. FoundationOne CDx. Technical information. https://assets.ctfassets.net/vhribv12lmne/6Rt6csmCPuaguuqmgi2iY8/2fe839f0e9075cf4a047bf241374e6af/F1CDx.Label.Technical_Info_Final_July_2019.pdf. Accessed September 4, 2019