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BRCA2 Gene Sequencing
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 GTR000509985.3
CAP
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITYCANCER ... 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 (7): Help
Breast cancer, susceptibility to; Breast cancer, early-onset; Breast cancer, familial male more...
Genes (1): Help
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 of hereditary nonpolyposis colorectal cancer, HNPCC, …
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
BRCA2
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
BRCA2
View other test codes
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
Clinical Testing/Confirmation of Mutations Identified Previously
    Comment: BRCA2 full gene sequencing
    OrderCode: BRCA2
Confirmation of research findings
    Comment: Targeted, site specific, mutation
    OrderCode: BR2F
Custom Sequence Analysis
    Comment: Targeted, site specific, mutation
    OrderCode: BR2F
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/4974
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
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 of hereditary nonpolyposis colorectal cancer, HNPCC, HNPCC-1, Muir-Torre syndrome, Mismatch repair cancer syndrome, Lynch syndrome
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 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
Does not detect large deletions, duplications and rearrangement in the BRCA2 gene region. It does not detect promoter or deep intronic mutations.
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
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.