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3 Ashkenazi BRCA1 and BRCA2 mutations
Clinical Genetic Test
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offered by
Genetic Services Laboratory
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GTR Test Accession: Help GTR000023659.5
CAP
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITYCANCER ... View more
Last updated in GTR: 2020-08-10
View version history
Last annual review date for the lab: 2024-07-22 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Monitoring; Mutation Confirmation; ...
Conditions (2): Help
Breast-ovarian cancer, familial, susceptibility to, 2; Hereditary breast ovarian cancer syndrome
Genes (2): Help
BRCA1 (17q21.31); BRCA2 (13q13.1)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis
Target population: Help
The target population is patients wishing to be screened for …
Clinical validity: Help
The Ashkenazi Jewish population has been found to have two …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Genetic Services Laboratory
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Buccal swab
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Saliva
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Sanjukta Tawde, Genetic Counselor
stawde@bsd.uchicago.edu
773-834-5812
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
All samples should be shipped via overnight delivery at room temperature.
No weekend or holiday deliveries.
Label each specimen with the patient’s name, date of birth and date sample collected.
Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
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
No
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Test strategy
Conditions Help
Total conditions: 2
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 *
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Monitoring; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening
Clinical validity: Help
The Ashkenazi Jewish population has been found to have two common mutations in the BRCA1 gene (185delAG and 5382insC) and one common mutation in BRCA2 gene (6174delT). It is believed that these three mutations account for 26% of the mutations for breast and/or ovarian cancers in the Ashkenazi Jewish population. … View more
View citations (1)
  • The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. Struewing JP, et al. N Engl J Med. 1997;336(20):1401-8. doi:10.1056/NEJM199705153362001. PMID: 9145676.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. Struewing JP, et al. N Engl J Med. 1997;336(20):1401-8. doi:10.1056/NEJM199705153362001. PMID: 9145676.

Target population: Help
The target population is patients wishing to be screened for the BRCA1 and BRCA2 mutations.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variants will be identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Research:
Is research allowed on the sample after clinical testing is complete? Help
http://dnatesting.uchicago.edu/research-consent-form
Recommended fields not provided:
Are family members with defined clinical status recruited to assess significance of VUS without charge?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Positive test results confirmed with repeat analysis
Test Confirmation: Help
Positive test results confirmed with repeat analysis
Test Comments: Help
Testing only for the BRCA1 gene (185delAG and 5382insC) and one common mutation in BRCA2 gene (6174delT) or for known familial mutations. Testing provided only in the context of appropriate counseling.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity 99-100% Accuracy 100% Precision 100%
Assay limitations: Help
This result does not rule-out other mutations in BRCA1, BRCA2 or other cancer predisposition genes.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations Help
A custom collection of bioinformatics tools

Laboratory's policy on reporting novel variations Help
The laboratory reports novel variations.
Recommended fields not provided:
Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
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.