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Prothrombin-Related Thrombophilia
Clinical Genetic Test
Help
offered by
Genetics Laboratory
GTR Test Accession: Help GTR000500305.3
CAP
INHERITED DISEASEHEMATOLOGY
Last updated in GTR: 2016-03-07
View version history
Last annual review date for the lab: 2023-02-08 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Thrombophilia due to thrombin defect
Genes (1): Help
F2 (11p11.2)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: SNP Detection
Target population: Help
This test confirms a diagnosis of Factor II in patients …
Clinical validity: Help
The relative risk for VTE is increased 2- to 5-fold …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Genetics Laboratory
View lab's website
Test short name: Help
Factor II
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
Samples should be submitted with the appropriate requisition form (DNA test request form). Samples are received Monday through Saturday. Blood should be collected in EDTA or ACD tubes.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Prenatal tesing
FISH Analysis
Drug Metabolism testing
Cytogenetics Analysis
Maternal Serum Screening
Uniparental Disomy (UPD) Testing
X-Chromosome Inactivation Studies
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Targeted variant analysis
SNP Detection
BioRad CFX96
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
The relative risk for VTE is increased 2- to 5-fold in 20210G>A heterozygotes. In addition to the increased risk for venous thromboembolism during pregnancy, some (though not all) evidence suggests that 20210G>A heterozygosity increases the risk for fetal loss
View citations (2)
  • Thrombophilia and pregnancy complications. Kujovich JL, et al. Am J Obstet Gynecol. 2004;191(2):412-24. doi:10.1016/j.ajog.2004.03.001. PMID: 15343215.
  • Genetics of venous thrombosis. Rosendaal FR, et al. J Thromb Haemost. 2009;7 Suppl 1:301-4. doi:10.1111/j.1538-7836.2009.03394.x. PMID: 19630821.
Clinical utility: Help
Establish or confirm diagnosis
View citations (2)
  • Thrombophilia and pregnancy complications. Kujovich JL, et al. Am J Obstet Gynecol. 2004;191(2):412-24. doi:10.1016/j.ajog.2004.03.001. PMID: 15343215.
  • Genetics of venous thrombosis. Rosendaal FR, et al. J Thromb Haemost. 2009;7 Suppl 1:301-4. doi:10.1111/j.1538-7836.2009.03394.x. PMID: 19630821.

Target population: Help
This test confirms a diagnosis of Factor II in patients with thrombosis associated with pregnancy, birth control pill usage, surgery, and those with leg thromboses, pulmonary embolism, or thrombotic stroke; patients with a positive family history of hypercoagulability, Factor V Leiden, and patients with pregnancy complications (recurrent loss, pre-eclampsia).
View citations (1)
  • A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Poort SR, et al. Blood. 1996;88(10):3698-703. PMID: 8916933.
Recommended fields not provided:
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 Confirmation: Help
Positive results are confirmed by comparison with known positive controls
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Based on data from the American College of Medical Genetics and the College of American Pathologists (ACMG/CAP) Molecular Genetics Survey Set MGL, the overall error rate for prothrombin G20210A mutation testing is 0.5% (95% CI 0.3-0.6%) by allele and 0.8% by individual (95% CI 0.5-1.1%); the analytic sensitivity is 98.8% … View more
View citations (2)
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:
Assay limitations, Description of internal test validation method, 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.