Factor V (Leiden) Mutation Analysis

What this laboratory test evaluates

DetailsFactor V (Leiden) Mutation Analysis – This test detects the factor V Leiden variant, the most common cause of inherited thrombophilia; it may be used to evaluate individuals with a strong personal or family history of venous thromboembolism (VTE) and inform treatment or preventive decisions [1].

Factor V Leiden refers to the c.1691G>A variant in the FV gene, which encodes coagulation factor V. This variant results in resistance to factor V protein degradation by activated protein C and increases the risk of VTE 6 to 8 fold in heterozygous carriers and 80 fold in homozygous carriers [1]. The mean age of symptom onset is 31 to 44 years, but some heterozygous carriers can be asymptomatic [2]. In the United States, Factor V Leiden is most prevalent in White individuals, with an estimated frequency of 5% [1].

Factor V Leiden testing may be indicated in clinical scenarios where results can help guide clinical decisions for the patient and family members. These clinical scenarios include first VTE developed under 50 years of age, VTE at an unusual site (eg, cerebral veins), recurrent VTE, a strong family history of VTE, and low activated protein C resistance activity [1].

Routine testing for factor V Leiden is not recommended for prenatal carrier screening, newborn screening, or individuals taking an oral contraceptive [2]. A negative result of this test does not rule out inherited thrombophilia. Other than factor V Leiden, variants in the genes that encode coagulation factor II, protein C, protein S, and antithrombin can also cause inherited thrombophilia.

The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.

References
1. Zhang S, et al. Genet Med. 2018;20(12):1489-1498.
2. Vnencak-Jones CL, et al. Genetics. In: Rifai R, et al, eds. Tietz Textbook of Laboratory Medicine. 7th ed. Elsevier Inc; 2022.

What type of sample is required for this test?5 mL whole blood collected in an EDTA (lavender-top) tube

Test ResourcesFor more information, please consult your healthcare provider.

Additional test information

Factor V (Leiden) Mutation Analysis – This test detects the factor V Leiden variant, the most common cause of inherited thrombophilia; it may be used to evaluate individuals with a strong personal or family history of venous thromboembolism (VTE) and inform treatment or preventive decisions.

Collection and processing

• Sample type: Whole blood
• Fasting: No
• Estimated laboratory processing: Results should be available in 2 – 5 business days after the sample is collected

How Sunridge uses laboratory information

Sunridge considers the medical question, symptoms, history, medications, prior results, and whether the finding could change care before recommending testing. A laboratory result is not interpreted in isolation and does not establish a diagnosis by itself.

Before requesting this test

Availability, collection requirements, eligibility, and processing estimates can change. Sunridge reviews each request and, when appropriate, creates the order through Fullscript. Follow the current instructions supplied with the approved order.