Factor V R2 DNA Analysis
Use
This test provides information about additional risk for venous thrombosis among individuals known to be heterozygous for factor V Leiden (one copy of mutation). This knowledge aids in prevention of venous thrombosis. Factor V Leiden is the most common genetic risk factor for venous thrombosis and pulmonary embolism. It is present in 5% of the Caucasian population and in 20% to 40% of individuals with a history of venous thromboembolism. Not all individuals who are heterozygous for factor V Leiden will experience a thrombotic event, and the factor V R2 DNA analysis identifies some individuals at risk. Factor V Leiden heterozygotes are at a sevenfold increased risk for venous thrombosis compared to the general population. Coexistence of the R2 polymorphism with factor V Leiden increases that risk by an additional threefold, leading to an increased risk of approximately 16-fold.
Special Instructions
Factor V R2 polymorphism is an inherited characteristic. If present, genetic counseling for patients and their families is recommended to obtain additional information on inheritance and to consider other family members who may be at risk.
Limitations
This is not a diagnostic test. It assesses increased risk of venous thromboembolism due to the presence of the factor V R2 variant in individuals who are heterozygous for factor V Leiden. Test results should be used in conjunction with clinical observation and other lab results. The test detects only the factor V R2 polymorphism at nucleotide 4070 and does not measure genetic abnormalities elsewhere in the genome.
Methodology
PCR-based (RFLP)
Biomarkers
LOINC Codes
- 41103-3
- 49549-9
- 35474-6
- 77202-0
Result Turnaround Time
3-9 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
0.5 mL
Container
Lavender-top (EDTA) tube (preferred) or yellow-top (ACD) tube
Storage Instructions
Maintain specimen at room temperature or refrigerate. Stable at room temperature and refrigerated for seven days.
Causes for Rejection
Clotted whole blood samples if adequate DNA not obtained; incorrect specimen type; frozen whole blood specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 7 days |
