Cell-Free DNA BRAF V600 Test, Blood
GTR Test Accession: Help GTR000607924.1
Last updated in GTR: 2023-06-23
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Therapeutic management
Genes (1): Help
BRAF (7q34)
Molecular Genetics - Targeted variant analysis: PCR
An alternative to invasive tissue biopsies for the determination of …
Not provided
Not provided
Ordering Information
Offered by: Help
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
Samantha Wiley, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Therapeutic management
Target population: Help
An alternative to invasive tissue biopsies for the determination of BRAF V600E and V600K alterations. Identification of patients with melanoma who are most likely to benefit from targeted therapies. This test is not intended for serial monitoring of patients with malignant melanoma, evaluating patients with other malignancies, or as a … View more
View citations (4)
  • Schwarzenbach H, Hoon DS, Pantel K. Cell-free nucleic acids as biomarkers in cancer patients. Nat Rev Cancer. 2011;11(6):426-37. doi:10.1038/nrc3066. Epub 2011 May 12. PMID: 21562580.
  • Update on the targeted therapy of melanoma. Johnson DB, et al. Curr Treat Options Oncol. 2013;14(2):280-92. doi:10.1007/s11864-013-0226-8. PMID: 23420410.
  • McArthur GA, Chapman PB, Robert C, Larkin J, Haanen JB, Dummer R, Ribas A, Hogg D, Hamid O, Ascierto PA, Garbe C, Testori A, Maio M, Lorigan P, Lebbé C, Jouary T, Schadendorf D, O'Day SJ, Kirkwood JM, Eggermont AM, Dréno B, Sosman JA, Flaherty KT, Yin M, Caro I, Cheng S, Trunzer K, Hauschild A. Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. Lancet Oncol. 2014;15(3):323-32. doi:10.1016/S1470-2045(14)70012-9. Epub 2014 Feb 07. PMID: 24508103.
  • Sanmamed MF, Fernández-Landázuri S, Rodríguez C, Zárate R, Lozano MD, Zubiri L, Perez-Gracia JL, Martín-Algarra S, González A. Quantitative cell-free circulating BRAFV600E mutation analysis by use of droplet digital PCR in the follow-up of patients with melanoma being treated with BRAF inhibitors. Clin Chem. 2015;61(1):297-304. doi:10.1373/clinchem.2014.230235. Epub 2014 Nov 19. PMID: 25411185.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Is research allowed on the sample after clinical testing is complete? Help
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Blood samples are collected in Streck Cell-Free DNA blood collection tubes. Cell-free DNA (cfDNA) is isolated from double-centrifuged plasma and assessed for the presence of the BRAF V600E and BRAF V600K alterations using digital droplet polymerase chain reaction (ddPCR).(Unpublished Mayo method)
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This droplet digital PCR assay was designed to detect the V600E and V600K mutations in the BRAF gene. This assay has been shown to be very reproducible, having a 100% concordance for intra- and interassay reproducibility experiments. All mutations that had been previously identified by various other molecular methods were … View more
Assay limitations: Help
Patients with a negative test result may still harbor a V600E or V600K alteration. Variant testing of a tissue specimen for BRAF alterations should be considered for patients with a negative result with this test. The limit of detection of this assay for the detection of BRAF V600E and V600K … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Alternative Assessment

Description of PT method: Help
Platform covered
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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