GTR Test Accession:
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GTR000025288.3
CAP
Last updated in GTR: 2017-04-12
View version history
GTR000025288.3, last updated: 2017-04-12
GTR000025288.2, last updated: 2016-05-06
GTR000025288.1, last updated: 2015-05-12
Last annual review date for the lab: 2024-09-20
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic
Conditions (1):
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Thrombophilia due to thrombin defect
Genes (2):
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F2 (11p11.2);
F5 (1q24.2)
Methods (1):
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Molecular Genetics - Targeted variant analysis: PCR with allele specific hybridization
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Peripheral (whole) blood
Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Informed consent required:
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No
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Test Order Code,
How to Order,
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 2
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Targeted variant analysis
PCR with allele specific hybridization
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Comments:
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Services offered for MILITARY HEALTHCARE BENEFICIARIES ONLY.
Test will not be performed on asymptomatic minors.
Test will not be performed on asymptomatic minors.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Expected to be greater than 95% for the targeted mutation.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/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:
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Not provided
Additional Information
Clinical resources:
Consumer resources:
IMPORTANT NOTE:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.