GTR Test Accession:
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GTR000509982.3
CAP
Last updated in GTR: 2024-07-08
View version history
GTR000509982.3, last updated: 2024-07-08
GTR000509982.2, last updated: 2022-06-16
GTR000509982.1, last updated: 2021-06-23
Last annual review date for the lab: 2024-07-08
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment; ...
Conditions (7):
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Breast-ovarian cancer, familial, susceptibility to, 1;
Breast cancer, early-onset;
Breast cancer, familial male
more...
Genes (1):
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BRCA1 (17q21.31)
Methods (1):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Patients with a diagnosis of Hereditary breast and ovarian cancer
Clinical validity:
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Not provided
Clinical utility:
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Predictive risk information for patient and/or family members
Ordering Information
Offered by:
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Test short name:
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BRC1D
Specimen Source:
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- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Test Order Code:
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BRC1D
View other test codes
View other test codes
Lab contact:
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Chen Yang, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
chnyang@umich.edu
734-615-2429
chnyang@umich.edu
734-615-2429
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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Provide appropriate sample, relevant clinical information and a completed requisition form. Contact an MLabs client service representative, 800-862-7284, for any questions. The laboratory recommends that pre- and post-test genetic counseling be offered and informed consent be obtained for this test but does not require documentation to accept and process the …
Order URL
Test service:
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Custom Deletion/Duplication Testing
Comment: BRCA1 deletion/duplication
OrderCode: BRC1D
Comment: BRCA1 deletion/duplication
OrderCode: BRC1D
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Based on applicable state law
Test strategy:
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https://www.pathology.med.umich.edu/handbook/#/details/4975
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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Yes
Conditions
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Total conditions: 7
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
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NextSeq 550
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment;
Screening
Clinical utility:
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Predictive risk information for patient and/or family members
Target population:
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Patients with a diagnosis of Hereditary breast and ovarian cancer
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Follow ACMG guidelines, suggest family study
Follow ACMG guidelines, suggest family study
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. by Phone or secure email
Yes. by Phone or secure email
Recommended fields not provided:
Clinical validity,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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All coding exons (plus 15 bp upstream and downstream of each coding exon) of the targeted gene(s) are captured, sequenced using NGS and aligned to the human reference genome. A minimum NGS coverage of 20X is achieved for all coding exons +/- 5 bp, and a minimum coverage of 10X …
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Test Confirmation:
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All reported variants of potential clinical significance not meeting the sequencing quality criteria will be confirmed by a different technology.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical Sensitivity 99-% Accuracy 99% Precision 99%
Assay limitations:
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Does not detect balanced genomic rearrangement in the BRCA1 gene region. It does not detect point mutations in the BRCA1 region.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
CAP Testing Information Help
Next-Generation Sequencing-Germline; Next-generation sequencing; NGS
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
CAP Testing Information Help
Next-Generation Sequencing-Germline; Next-generation sequencing; NGS
VUS:
Laboratory's policy on reporting novel variations
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Contact ordering physician by phone and by routine report; recommend clinical genetics follow up and/or genetic counseling and parental testing
Contact ordering physician by phone and by routine report; recommend clinical genetics follow up and/or genetic counseling and parental testing
Recommended fields not provided:
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method
Regulatory Approval
FDA Review:
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Category:
Not Applicable
Additional Information
Suggested reading:
Clinical resources:
Molecular 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.