Factor V Leiden (F5) R506Q Mutation

Casandra

Casandra Test Code AR53809Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 0097720CPT Code 81241

Factor V Leiden (F5) R506Q Mutation

Also known as: FACV

Clinical Use

Order Test

Use

The Factor V Leiden (F5) R506Q Mutation test is used to assess the genetic risk for venous thromboembolism (VTE), which is a condition involving blood clots that can lead to significant complications. This mutation is the most common genetic risk factor for inherited VTE and accounts for over 90 percent of cases due to activated protein C resistance. VTE is multifactorial, involving both genetic and environmental factors such as age, immobilization, and medication use, among others. Understanding whether an individual has this mutation can guide clinical management and preventive strategies, particularly for those with additional risk factors for thrombosis.

Special Instructions

Genetic counseling and informed consent are recommended before undergoing this test, particularly for New York state patients, as submission requires an informed consent form. The test should not be ordered for asymptomatic patients under 18 years of age. Specimen must be collected in specific tubes (Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B)) and must not be plasma or serum. New York clients specifically need to provide informed consent with submission.

Limitations

This test is specific for the detection of the Factor V Leiden variant (c.1601G>A; p.Arg534Gln) and does not detect other mutations in the F5 gene or other genetic markers associated with thrombosis. Diagnostic errors can occur due to rare sequence variations. The assay's analytical sensitivity and specificity are 99 percent for the detected mutation, but other F5 gene mutations will not be identified. This test is a Laboratory Developed Test (LDT) and has not been FDA cleared or approved.

Test Details

New York Approved