GTR Test Accession:
Help
GTR000558867.3
CAP
Last updated in GTR: 2021-12-28
View version history
GTR000558867.3, last updated: 2021-12-28
GTR000558867.2, last updated: 2020-12-18
GTR000558867.1, last updated: 2019-12-27
Last annual review date for the lab: 2021-12-28
Past due
LinkOut
At a Glance
Test purpose:
Help
Predictive;
Recurrence;
Risk Assessment; ...
Conditions (1):
Help
Hereditary breast ovarian cancer syndrome
Genes (10):
Help
ATM (11q22.3), BRCA1 (17q21.31), BRCA2 (13q13.1), BRIP1 (17q23.2), CDH1 (16q22.1), ...
Methods (1):
Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Meet Ontario Health Hereditary Cancer Testing criteria
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Molecular Genetics Laboratory
Test short name:
Help
HCT
Specimen Source:
Help
- Cell culture
- Peripheral (whole) blood
- Saliva
- Skin
- View specimen requirements
Who can order: Help
- Health Care Provider
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.
Test service:
Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
Help
Manufactured (research use only; not FDA-reviewed)
Informed consent required:
Help
Yes
Pre-test genetic counseling required:
Help
Yes
Post-test genetic counseling required:
Help
Yes
Recommended fields not provided:
Test Order Code,
How to Order,
Lab contact for this test,
Test strategy
Conditions
Help
Total conditions: 1
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 10
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 NextSeq550
Clinical Information
Test purpose:
Help
Predictive;
Recurrence;
Risk Assessment;
Screening
Target population:
Help
Meet Ontario Health Hereditary Cancer Testing criteria
View citations (1)
- Maintenance antipsychotic therapy: is the cure worse than the disease?. Gardos G, et al. Am J Psychiatry. 1976;133(1):32-6. doi:10.1176/ajp.133.1.32. PMID: 2021 Hereditary Cancer Testing Eligibility Criteria: Version 2.
Recommended fields not provided:
Clinical validity,
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Platform:
SOPHiA
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
sensitivity: ~99%; specficity: 100%
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
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
Recommended fields not provided:
Test Confirmation,
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:
Not Applicable
Additional Information
Suggested reading:
Clinical resources:
Molecular resources:
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.