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BRCA1 deletion/duplication testing
Clinical Genetic Test
Help
offered by
Michigan Medical Genetics Laboratories
View lab's test page
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GTR Test Accession: Help GTR000509982.2
CANCERINHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITY ... View more
Last updated in GTR: 2022-06-16
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Last annual review date for the lab: 2023-06-16 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Conditions (7): Help
Breast-ovarian cancer, familial, susceptibility to, 1; Breast cancer, early-onset; Breast cancer, familial male; ...
Genes (1): Help
BRCA1 (17q21.31)
Methods (1): Help
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: Help
Not provided
Clinical utility: Help
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
BRC1D
View other test codes
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
Custom Deletion/Duplication Testing
    Comment: BRCA1 deletion/duplication
    OrderCode: BRC1D
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/4975
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Lab contact for this test
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
View citations (1)

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:
Clinical validity, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
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-% Accuracy 99% Precision 99%
Assay limitations: Help
Does not detect balanced genomic rearrangement in the CBRCA1 gene region. It does not detect point mutations in the BRCA region.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
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:
Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
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.