Ordering Recommendation

Order for individuals at risk for Venous thromboembolism (VTE) when results will impact clinical management.

Mnemonic
FACV
Methodology

Polymerase Chain Reaction/Fluorescence Monitoring

Performed

Sun-Sat

Reported

3-8 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Lavender (EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Plasma or serum; collection of specimen in sodium heparin tubes.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month

Reference Interval

Negative: This sample is negative for factor V Leiden, R506Q mutation.

Interpretive Data

Background Information for Factor V Leiden (F5) R506Q Mutation
Characteristics:
Venous thromboembolism (VTE) is a multifactorial condition caused by a combination of genetic and environmental factors. The Factor V Leiden (FVL) variant is the most common cause of inherited VTEs, accounting for over 90 percent of activated protein C (APC) resistance. Because the FVL variant eliminates the APC cleavage site, factor V is inactivated slower, thus persisting longer in blood circulation, leading to more thrombin production. Other genetic risk factors for VTE include, male sex and variants in antithrombin, protein C, protein S, or factor XIII. Non-genetic risk factors include, age, smoking, prolonged immobilization, malignant neoplasms, surgery, pregnancy, oral contraceptives, estrogen replacement therapy, tamoxifen and raloxifene therapy.
Incidence of Factor V Leiden Variant:
Approximately 5 percent of Caucasians, 2 percent of Hispanics, 1 percent of African Americans and 0.5 percent of Asians are heterozygous; homozygosity occurs in 1 in 1500 Caucasians.
Inheritance:
Semi-dominant; both heterozygotes and homozygotes are at increased risk for VTE.
Penetrance:
Lifetime risk of VTE is 10 percent for heterozygotes and 80 percent for homozygotes.
Cause:
The pathogenic gain of function in the F5 gene variant c.1601G>A (p.Arg534Gln). Legacy nomenclature: R506Q (1691G>A).
Clinical Sensitivity: 20-50 percent of individuals with an isolated VTE have the FVL variant.
Methodology:
Polymerase chain reaction and fluorescence monitoring.
Analytical Sensitivity and Specificity:
99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations. F5 gene mutations, other than p.Arg534Gln, will not be detected.

Compliance Category

Laboratory Developed Test (LDT)

Note

This test is not recommended for nonsymptomatic patients under 18 years of age.

Hotline History
N/A
CPT Codes

81241

Components
Component Test Code* Component Chart Name LOINC
0097720 Factor V Leiden (F5) R506Q Mutation 21668-9
2001387 FACV Specimen 31208-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Activated protein C resistance mutation
  • APC Resistance Mutation Detection
  • FVL R506Q mutation testing
Factor V Leiden (F5) R506Q Mutation