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Prothrombin (Factor II) Gene mutation
Clinical Genetic Test
Help
offered by
Molecular Diagnostics
GTR Test Accession: Help GTR000556800.2
HEMATOLOGY
Last updated in GTR: 2021-07-15
View version history
Last annual review date for the lab: 2024-10-15 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Risk Assessment
Conditions (1): Help
Thrombophilia
Genes (1): Help
F2 (11p11.2)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: PCR with allele specific hybridization
Target population: Help
Patients with venous thrombosis or at risk of venous thrombosis …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostics
Test short name: Help
PTGEN
Specimen Source: Help
  • Peripheral (whole) blood
Test Order Code: Help
PTGEN
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:
How to Order, Lab contact for this test, Contact policy, Test strategy, Test development
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
PCR with allele specific hybridization
GeneXpert
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment
Target population: Help
Patients with venous thrombosis or at risk of venous thrombosis due to family history
View citations (1)
  • Lefferts JA, Jannetto P, Tsongalis GJ. Evaluation of the Nanosphere Verigene System and the Verigene F5/F2/MTHFR Nucleic Acid Tests. Exp Mol Pathol. 2009;87(2):105-8. doi:10.1016/j.yexmp.2009.06.002. Epub 2009 Jun 30. PMID: 19573527.
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity 100%; 95% CI 56-100%. Analytical specificity 95%; 95% CI 82-99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
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
Consumer resources:

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