BRCA1 deletion/duplication testing
GTR Test Accession: Help GTR000509982.3
CAP
CANCERINHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITY ... View more
Last updated in GTR: 2024-07-08
Last annual review date for the lab: 2024-07-08 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Breast-ovarian cancer, familial, susceptibility to, 1; Breast cancer, early-onset; Breast cancer, familial male more...
Genes (1): Help
BRCA1 (17q21.31)
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
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
BRC1D
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
Lab contact: Help
Chen Yang, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
chnyang@umich.edu
734-615-2429
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. 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 …
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Order URL
Test service: Help
Custom Deletion/Duplication Testing
    Comment: BRCA1 deletion/duplication
    OrderCode: BRC1D
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
https://www.pathology.med.umich.edu/handbook/#/details/4975
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Conditions Help
Total conditions: 7
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NextSeq 550
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:
What is the protocol for interpreting a variation as a VUS? Help
Follow ACMG guidelines, suggest family study

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
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 … View more
Test Confirmation: Help
All reported variants of potential clinical significance not meeting the sequencing quality criteria will be confirmed by a different technology.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity 99-% Accuracy 99% Precision 99%
Assay limitations: Help
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? Help
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 Help
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:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.