Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000500035.3
Last updated in GTR: 2016-09-19
View version history
GTR000500035.3, last updated: 2016-09-19
GTR000500035.2, last updated: 2015-11-10
GTR000500035.1, last updated: 2013-11-27
Last annual review date for the lab: 2024-07-01
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (4):
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Thrombophilia due to thrombin defect;
Congenital plasminogen activator inhibitor type 1 deficiency;
MTHFR THERMOLABILE POLYMORPHISM
more...
Genes (4):
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F2 (11p11.2);
F5 (1q24.2);
MTHFR (1p36.22);
SERPINE1 (7q22.1)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Allelic Discrimination TaqMan Assay
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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Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's website
View lab's test page
View lab's website
View lab's test page
Test short name:
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Thrombophilic Polymorphism
Lab contact:
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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.
How to Order:
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Complete the appropriate test requisiton and have it signed by the referring physician.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Decline to answer
Test strategy:
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Analysis of Factor V Leiden mutation is also offered as a single test
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Specimen source
Conditions
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Total conditions: 4
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 4
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
Allelic Discrimination TaqMan Assay
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment
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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Analysis of Factor V Leiden mutation is also offered as a single test
This test methodology evaluates for Factor V Leiden R506Q , Prothrombin G20210A, MTHFR C677T, MTHFR A129C, PAI-1 4G/5G
This test methodology evaluates for Factor V Leiden R506Q , Prothrombin G20210A, MTHFR C677T, MTHFR A129C, PAI-1 4G/5G
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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This test methodology detects >99% of instances of these mutations.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
Yes
Method used for proficiency testing: Help
Inter-Laboratory
Recommended fields not provided:
Test Confirmation,
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:
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Not provided
Additional Information
Clinical resources:
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.