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BRCA1 and BRCA2 Sequencing and Del/Dup
Clinical Genetic Test
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offered by
Michigan Medical Genetics Laboratories
View lab's test page
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GTR Test Accession: Help GTR000509980.3
CAP
INHERITED DISEASECANCERINHERITED DISEASE SUSCEPTIBILITY ... View more
Last updated in GTR: 2024-07-08
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Last annual review date for the lab: 2024-07-08 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Conditions (8): Help
Hereditary breast ovarian cancer syndrome; Breast cancer, early-onset; Breast cancer, familial male more...
Genes (2): Help
BRCA1 (17q21.31); BRCA2 (13q13.1)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Patients with a diagnosis or at risk of Hereditary Breast …
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
BRCA
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
BOPND
View other test codes
Lab contact: Help
Chen Yang, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
[email protected]
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
Clinical Testing/Confirmation of Mutations Identified Previously
    Comment: Sequencing of BRCA1 gene only
    OrderCode: BRCA1
Clinical Testing/Confirmation of Mutations Identified Previously
    Comment: Sequencing of BRCA2 gene only
    OrderCode: BRCA2
Custom Deletion/Duplication Testing
    Comment: Deletion/duplication testing for BRCA1 gene
    OrderCode: BRC1D
Custom Deletion/Duplication Testing
    Comment: Deletion/duplication testing for BRCA2 gene
    OrderCode: BRC2D
Custom Sequence Analysis
    Comment: Targeted, site specific, sequencing of BRCA1 gene
    OrderCode: BR1F
Custom Sequence Analysis
    Comment: Targeted, site specific, sequencing of BRCA2 gene
    OrderCode: BR2F
BRCA1 and BRCA2 mutation panel
    Comment: BRCA1 and BRCA2 sequencing and deletion/duplication analyses
    OrderCode: BRCA
BRCA Ashkenazi Jewish Founder Mutations
    Comment: C3 Ashkenazi BRCA1 and BRCA2 mutation analysis
    OrderCode: BRAJ
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/5314
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Conditions Help
Total conditions: 8
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: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
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 or at risk 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
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 Platform:
None/not applicable
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 99-100% Accuracy 100% Precision 100%
Assay limitations: Help
This analysis will not identify mutations in the regulatory elements or deep intronic regions of BRCA1 or BRCA2 that are not covered by this panel test, and cannot detect mutations in other genes associated with hereditary breast and ovarian cancer. This assay may not detect balanced translocations involving BRCA1 or … View more
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:
Software used to interpret novel variations Help
REVEL, BayesDel_noAF, SpliceAI, Varsome, varSEAK

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, Description of PT method
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.