BRCA Ashkenazi Jewish founder mutations
GTR Test Accession: Help GTR000509978.2
CAP
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITYCANCER ... View more
Last updated in GTR: 2022-06-16
Last annual review date for the lab: 2023-06-16 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Hereditary breast ovarian cancer syndrome
Genes (2): Help
BRCA1 (17q21.31), BRCA2 (13q13.1)
Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis
Patients with a diagnosis of hereditary breast and ovarian cancer
Not provided
Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Michigan Medical Genetics Laboratories
View lab's website
View lab's test page
Test short name: Help
BRAJ
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
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
Provide appropriate sample, relevant clinical information and a completed requisition form.
Order URL
Test service: Help
Targeted testing of 3 founder mutations
    Comment: Ashkenazi Jewish founder mutations
    OrderCode: BRAJ
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
https://www.pathology.med.umich.edu/handbook/#/details/4982
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Clinical utility: Help
Predictive risk information for patient and/or family members

Target population: Help
Patients with a diagnosis of hereditary breast and ovarian cancer
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. by Phone or secure email
Recommended fields not provided:
Technical Information
Test Procedure: Help
Using new aliquot/sample
Test Confirmation: Help
Using new aliquot/sample
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity 99-100% Accuracy 100% Precision 100%
Assay limitations: Help
Does not detect large deletions, duplications and rearrangement in the BRCA1 or BRCA2 genes. It does not detect promoter or deep intronic mutations or mutations outside the targeted regions.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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