Classic view of this page
BRCA1 and BRCA2 gene
Clinical Genetic Test
Help
offered by
QDx Pathology Services, Inc.
View lab's test page
LinkOut
GTR Test Accession: Help GTR000591329.1
INHERITED DISEASEINHERITED DISEASE SUSCEPTIBILITYCANCER ... View more
Registered in GTR: 2020-08-12
View version history
Last annual review date for the lab: 2021-07-16 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Predictive; Prognostic
Conditions (3): Help
Breast-ovarian cancer, familial, susceptibility to, 2; Breast-ovarian cancer, familial, susceptibility to, 1; Familial cancer of breast
Genes (2): Help
BRCA1 (17q21.31); BRCA2 (13q13.1)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Patient with family history
Clinical validity: Help
99.99
Clinical utility: Help
Establish or confirm diagnosis; Lifestyle planning; Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
QDx Pathology Services, Inc.
View lab's website
View lab's test page
Test short name: Help
BRCA 1/2
Specimen Source: Help
  • Buccal swab
  • Isolated DNA
  • Saliva
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
CDx002
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
Fill test requisition form and submit with saliva or buccal swab specimen
Order URL
Test service: Help
Full gene sequencing and del/dup 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
Yes
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 3
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: 2
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
illumina Miniseq
Clinical Information
Test purpose: Help
Diagnosis; Predictive; Prognostic
Clinical validity: Help
99.99
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Lifestyle planning
View citations (1)

Predictive risk information for patient and/or family members
View citations (1)

Target population: Help
Patient with family history
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
We follow ACMG guidelines for providing classification and interpretation of VUS

Will the lab re-contact the ordering physician if variant interpretation changes? Help
.
Recommended fields not provided:
Are family members with defined clinical status recruited to assess significance of VUS without charge?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Platform:
None/not applicable
Test Confirmation: Help
Positive results are confirmed with Sanger sequencing
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Control samples with over 1000 known variants were used to establish analytical validity. Analytical validity of > 99.99% was achieved.
Assay limitations: Help
10 ng of purified DNA
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

Description of internal test validation method: Help
Following CLIA guidelines
Recommended fields not provided:
Citations to support assay limitations, Citations to support 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: 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.