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Factor V Leiden (G1691A)
Clinical Genetic Test
Help
offered by
Versiti Diagnostic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000521847.6
NYS CLEP
INHERITED DISEASEHEMATOLOGY
Last updated in GTR: 2022-10-25
View version history
Last annual review date for the lab: 2023-06-08 Past due LinkOut
At a Glance
Test purpose: Help
Risk Assessment
Conditions (1): Help
Thrombophilia due to activated protein C resistance
Genes (1): Help
F5 (1q24.2)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: PCR with allele specific hybridization
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Versiti Diagnostic Laboratories
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
1035
View other test codes
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
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 1035
Genetic counseling
Result interpretation
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
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 *
Sequence analysis of the entire coding region
PCR with allele specific hybridization
* Instrument: Not provided
Clinical Information
Test purpose: Help
Risk Assessment
Clinical utility: Help
Predictive risk information for patient and/or family members
View citations (1)

Recommended fields not provided:
Clinical validity, 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
Test Comments: Help
Poor plasma anticoagulant response to activated protein C (APC resistance) is the most commonly observed inherited defect associated with thrombotic risk. The transition of guanine (G) to adenine (A) at position 1691 of the factor V gene causes substitution of glutamine for arginine at amino acid 506, resulting in Factor … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Poor plasma anticoagulant response to activated protein C (APC resistance) is the most commonly observed inherited defect associated with thrombotic risk. The transition of guanine (G) to adenine (A) at position 1691 of the factor V gene causes substitution of glutamine for arginine at amino acid 506, resulting in Factor … View more
Assay limitations: Help
Analytical sensitivity is >99% for mutations within the coding sequence and intron/exon borders. Mutations that are outside the regions sequenced will not be detected. Rare polymorphisms within primer or probe regions may interfere with detection of gene variants. Clinical sensitivity for hemophilia B is > 99% for males and 97% … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Citations to support 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: Help
Category: FDA exercises enforcement discretion
NYS CLEP Approval: Help
Number: 1340
Status: Approved
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.