Factor V Leiden (F5) R506Q Mutation
0097720
Ordering Recommendation
Order to detect factor V Leiden mutation.
Mnemonic
FACV
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Sun-Sat
Reported
2-5 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
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
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:
Factor V Leiden mutation is the most common cause of inherited thrombophilia and accounts for over 90 percent of activated protein C resistance. The expression of Factor V Leiden thrombophilia is impacted by coexisting genetic thrombophilic disorders, acquired thrombophilic disorders (malignancy, hyperhomocysteinemia, high factor VIII levels), and circumstances including: pregnancy, oral contraceptive use, hormone replacement therapy, selective estrogen receptor modulators, travel, central venous catheters, surgery, transplantation and advanced age.
Incidence:
Approximately 5 percent of Caucasians, 2 percent of Hispanics, 1 percent of African Americans and Native Americans and 0.5 percent of Asians are heterozygous; homozygosity occurs in 1 in 5000 individuals.
Inheritance:
Incomplete autosomal dominant.
Penetrance:
Lifetime risk of thrombosis is 10 percent for heterozygotes and 80 percent for homozygotes.
Cause:
A deleterious F5 gene mutation R506Q (1691G>A). Note: Standardized nomenclature for the Factor V Leiden mutation is c.1601G>A (p.Arg534Gln).
Clinical Sensitivity and Specificity:
99 percent.
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 R506Q, will not be detected.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
Note
This test is not recommended for nonsymptomatic patients under 18 years of age.
CPT Code(s)
81241
Components
Component Test Code*Component Chart Name
0097720Factor V Leiden (F5) R506Q Mutation
2001387FACV Specimen
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Cross References
  • Activated protein C resistance mutation
  • APC Resistance Mutation Detection
  • FVL R506Q mutation testing