Factor V (Leiden) Mutation Analysis

Quest Diagnostics

Sample type: Whole blood

Requires fasting: No

Phlebotomy required

Details

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.

Biomarker summary

Factor V (Leiden) Mutation

Additional details

Estimated days for results: Results should be available in 2 - 5 business days after the sample is collected

Details

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 Resources

For more information, please consult your healthcare provider.

Average sample processing time

2–5 business days

Health categories

Patient instructions

Blood Draw Options with Fullscript
Fullscript offers several convenient phlebotomy options to complete your lab testing:

Quest Diagnostics Patient Service Centers (PSC)

Location: Visit a nearby Quest Diagnostics Patient Service Center.
Cost: $10 sample collection fee (paid during lab order checkout).
Scheduling: Schedule your appointment here. Appointments are recommended to reduce wait times. Walk-ins are accepted, but may experience delays. Aim to arrive 10 minutes before your appointment.
Collection Instructions:

Bring a valid ID.
Bring your digital or printed requisition form, available in the Labs tab of your Fullscript account.

Check-in: Scan the QR code from your confirmation email or follow kiosk instructions.
More Info: Quest Diagnostics blood draw guide

Getlabs Mobile Phlebotomy

Location: Sample collection at your home or office.
Cost: $85 sample collection fee (paid during lab order checkout).
Availability: Available in most locations – enter your ZIP code during checkout to confirm.
Scheduling: Schedule your appointment here through your Fullscript account.
Collection Instructions:

Have your digital or printed requisition form and valid ID ready.
Your phlebotomist will contact you by phone to coordinate arrival.

More Info: Getlabs blood draw guide

In-office phlebotomy instructions

Specimen

Preferred Specimen(s): 4 mL whole blood collected in an EDTA (lavender-top) tube
Alternative: NA
Minimum Volume: 3 mL
Collection Instructions: NA

Storage and shipping instructions