Factor V Leiden (F5) R506Q Mutation
Also known as: FACV
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
Not provided.
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.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 21668-9 - F5 p.R506Q Bld/T Ql
- 31208-2 - Specimen source
Result Turnaround Time
2-5 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B)
Storage Instructions
Preferred transport temperature is refrigerated.
Causes for Rejection
Plasma or serum; collection of specimen in sodium heparin tubes; frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 3 days |
| Refrigerated | 1 week |
| Frozen | 1 month |
Other tests from different labs that may be relevant