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Factor V Leiden Genotyping, MTHFR C677T and A1298C Genotyping, and … see more Factor V Leiden Genotyping, MTHFR C677T and A1298C Genotyping, and SERPINE1 (PAI-1) 4G/5G Genotyping  see less
Clinical Genetic Test
Help
offered by
PathGroup
GTR Test Accession: Help GTR000571330.2
CAP
INHERITED DISEASEHEMATOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2020-03-03
View version history
Last annual review date for the lab: 2022-12-28 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Risk Assessment
Conditions (4): Help
Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Congenital plasminogen activator inhibitor type 1 deficiency; MTHFR THERMOLABILE POLYMORPHISM more...
Genes (3): Help
F5 (1q24.2); MTHFR (1p36.22); SERPINE1 (7q22.1)
Methods (2): Help
Molecular Genetics - Targeted variant analysis: Hologic Invader; SNP Detection
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
PathGroup
View lab's website
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Informed consent required: Help
Decline to answer
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, How to Order, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Hologic Invader
Targeted variant analysis
SNP Detection
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytic sensitivity and specificity > 99%
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
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
Not provided
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.