Hereditary Breast and Ovarian Cancer BRCA1&2
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000527942.3
CAP
INHERITED DISEASECANCERINHERITED DISEASE SUSCEPTIBILITY ... View more
Last updated in GTR: 2015-09-02
Last annual review date for the lab: 2024-07-23 LinkOut
At a Glance
Drug Response; Mutation Confirmation; Pre-symptomatic; ...
Hereditary breast ovarian cancer syndrome; Breast neoplasm; Breast-ovarian cancer, familial, susceptibility to, 1 more...
Genes (2): Help
BRCA1 (17q21.31); BRCA2 (13q13.1)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Breast cancer history
Not provided
Guidance for management
Ordering Information
Offered by: Help
Test short name: Help
BRCA1/2
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
  • Public Health Mandate
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
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 5
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: 3
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3130 Genetic Analyzer, MRC Holland
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Applied Biosystems 3130 Genetic Analyzer, CE IVD Kit
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3130 Genetic Analyzer
Clinical Information
Test purpose: Help
Drug Response; Mutation Confirmation; Pre-symptomatic; Predictive; Prognostic; Risk Assessment; Screening; Therapeutic management
Target population: Help
Breast cancer history
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.
Recommended fields not provided:
Technical Information
Test Platform:
Illumina MiSeq system
Test Confirmation: Help
Positive results are confirmed on a new DNA preparation using bidirectional Sanger sequence analysis (for point mutations and small indels) or an alternative probe mix (MRC, Holland) for large genomic rearrangements.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
yes 100%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

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

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. 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.