GTR Test Accession:
Help
GTR000527942.3
CAP
Last updated in GTR:
2015-09-02
View version history
GTR000527942.3,
last updated:
2015-09-02
GTR000527942.2,
last updated:
2015-08-31
GTR000527942.1,
registered in GTR:
2015-08-28
Last annual review date for the lab: 2024-07-23
LinkOut
At a Glance
Test purpose:
Help
Drug Response;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (5):
Help
Hereditary breast ovarian cancer syndrome;
Breast neoplasm;
Breast-ovarian cancer, familial, susceptibility to, 1
more...
Genes (2):
Help
BRCA1 (17q21.31);
BRCA2 (13q13.1)
Methods (3):
Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Breast cancer history
Clinical validity:
Help
Not provided
Clinical utility:
Help
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:
Test Order Code,
Lab contact for this test,
Test strategy,
Test development
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
Clinical utility:
Help
Guidance for 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.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
Help
Yes.
Yes.
Recommended fields not provided:
Clinical validity,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
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
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
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:
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
Help
Not provided
Additional Information
Suggested reading:
Clinical resources:
Molecular resources:
Practice guidelines:
Consumer resources:
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.