Factor II variant
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000560550.2
CAP
INHERITED DISEASEHEMATOLOGY
Last updated in GTR: 2019-12-23
Last annual review date for the lab: 2023-09-08 LinkOut
At a Glance
Diagnosis; Risk Assessment
Hereditary thrombophilia
Genes (1): Help
F2 (11p11.2)
Molecular Genetics - Targeted variant analysis: PCR with allele specific hybridization
Coagulopathies
Not provided
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostics, Sunnybrook HSC
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
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
4mL EDTA whole blood or 2ug genomic DNA
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Manufactured (research use only; not FDA-reviewed)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
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
ABI StepOnePlus
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment
Target population: Help
Coagulopathies
View citations (1)
  • American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Grody WW, et al. Genet Med. 2001;3(2):139-48. doi:10.1097/00125817-200103000-00009. PMID: 11280951.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
N/A

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Test Procedure: Help
TaqMan assay
Test Platform:
None/not applicable
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
100% concordance with 66 samples of known genotypes
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:
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.