BRCA2 Gene Sequencing - Clinical Genetic Test - GTR

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BRCA2 Gene Sequencing

Clinical Genetic Test

offered by

Michigan Medical Genetics Laboratories

View lab's test page

GTR Test Accession: GTR000509985.2

INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITYCANCER ... View more

Last updated in GTR: 2022-06-16

Last annual review date for the lab: 2023-06-16

At a Glance

Test purpose:

Diagnosis; Mutation Confirmation; Risk Assessment; ...

Conditions (7):

Breast cancer, susceptibility to; Breast cancer, early-onset; Breast cancer, familial male; ...

Genes (1):

BRCA2 (13q13.1)

Methods (1):

Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)

Target population:

Patients with a diagnosis of hereditary nonpolyposis colorectal cancer, HNPCC, …

Clinical validity:

Not provided

Clinical utility:

Predictive risk information for patient and/or family members

Ordering Information

Offered by:

Michigan Medical Genetics Laboratories
View lab's website
View lab's test page

Test short name:

BRCA2

Specimen Source:

Peripheral (whole) blood
View specimen requirements

Who can order:

Genetic Counselor
Health Care Provider
Licensed Physician

Test Order Code:

BRCA2
View other test codes

Contact Policy:

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:

Provide appropriate sample, relevant clinical information and a completed requisition form.
Order URL

Test service:

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:

Test developed by laboratory (no manufacturer test name)

Informed consent required:

Based on applicable state law

Test strategy:

https://www.pathology.med.umich.edu/handbook/#/details/4974

Pre-test genetic counseling required:

Yes

Post-test genetic counseling required:

Yes

Recommended fields not provided:

Lab contact for this test

Conditions

Total conditions: 7

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 1

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 1

Method Category

Test method

Instrument

Sequence analysis of the entire coding region

Next-Generation (NGS)/Massively parallel sequencing (MPS)

Illumina NextSeq 550

Clinical Information

Test purpose:

Diagnosis; Mutation Confirmation; Risk Assessment; Screening

Clinical utility:

Predictive risk information for patient and/or family members

View citations (1)

http://omim.org/entry/600185?search=brca2&highlight=brca2

Target population:

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?
Follow ACMG guidelines, suggest family study

Are family members with defined clinical status recruited to assess significance of VUS without charge?
No.

Will the lab re-contact the ordering physician if variant interpretation changes?
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:

Using new sample

Test Confirmation:

Using new sample

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

Analytical Sensitivity 99-100%, Accuracy 100%, Precision 100%.

Assay limitations:

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?
Yes

Method used for proficiency testing:
Intra-Laboratory

VUS:

Software used to interpret novel variations
SIFT, PolyPhen2, RESCUE-ESE Web Server, Berkeley Drosophila Genome Project

Laboratory's policy on reporting novel variations
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:

Category: FDA exercises enforcement discretion

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

Practice guidelines:

Consumer resources:

MedlinePlusGenetics (GHR)

MedlinePlus

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.