GTR Test Accession:
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GTR000571363.1
Registered in GTR:
2020-02-28
View version history
GTR000571363.1,
registered in GTR:
2020-02-28
Last annual review date for the lab: 2024-02-12
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Prognostic;
Therapeutic management
Conditions (4):
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Genes (1):
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BRAF (7q34)
Methods (2):
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Molecular Genetics - Targeted variant analysis: Digital microfluidic microspheres; PCR
Target population: Help
BRAF is a proto-oncogene with roles in cellular proliferation and …
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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BRAF V600E
Specimen Source:
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- Bone marrow
- Fresh tissue
- Frozen tissue
- Paraffin block
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Licensed Physician
- Nurse Practitioner
CPT codes:
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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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Please, contact the Laboratory for Molecular Pediatric Pathology for ordering information.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
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 Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 4
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: 2
Method Category
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Test method
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Instrument
Targeted variant analysis
Digital microfluidic microspheres
Targeted variant analysis
PCR
BioRad QX200
Clinical Information
Test purpose:
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Diagnosis;
Prognostic;
Therapeutic management
Target population:
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BRAF is a proto-oncogene with roles in cellular proliferation and differentiation. Somatic activating variants are present in numerous malignancies and may contribute to tumorigenesis. Over 90% of BRAF variants occur at a single site and result in a valine-to-glutamate substitution at amino acid 600 (V600E). Droplet digital polymerase chain reaction …
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Recommended fields not provided:
Clinical validity,
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Platform:
None/not applicable
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Based on internal validation experiments, variant alleles are considered "detected" if they demonstrate variant fractional abundance ≥1%, "indeterminate" if <1% but ≥0.5%, and "not detected" if <0.5%. Therefore this assay may not detect variants with a very low allele fraction or in samples with a very low tumor percentage. For …
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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
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
Not Applicable
Additional Information
Reviews:
Clinical resources:
Practice guidelines:
Consumer resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.