GTR Test Accession:
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GTR000607924.1
Registered in GTR:
2023-06-23
View version history
GTR000607924.1,
registered in GTR:
2023-06-23
Last annual review date for the lab: 2024-05-28
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At a Glance
Methods (1):
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Molecular Genetics - Targeted variant analysis: PCR
Target population: Help
An alternative to invasive tissue biopsies for the determination of …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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BRAFB
Specimen Source:
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- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Public Health Mandate
- Registered Nurse
Lab contact:
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Samantha Wiley, CGC, Certified Genetic counselor, CGC, Genetic Counselor
wiley.samantha@mayo.edu
wiley.samantha@mayo.edu
Contact Policy:
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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:
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https://www.mayocliniclabs.com/test-catalog/overview/65100#Specimen
Order URL
Order URL
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Targeted variant analysis
PCR
* Instrument: Not provided
Clinical Information
Test purpose:
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Therapeutic management
Target population:
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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 …
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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?
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Decline to answer.
Decline to answer.
Will the lab re-contact the ordering physician if variant interpretation changes?
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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.
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.
Research:
Is research allowed on the sample after clinical testing is complete?
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Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Clinical validity,
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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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:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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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 …
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Assay limitations:
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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 …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Alternative Assessment
Description of PT method: Help
Platform covered
Yes
Method used for proficiency testing: Help
Alternative Assessment
Description of PT method: Help
Platform covered
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Reviews:
Suggested reading:
Clinical resources:
Practice guidelines:
Consumer resources:
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NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.