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Factor V Leiden (R506Q) Mutat.
MessageActivated protein C-resistance screening will be performed first and only those positive patients will be confirmed by Factor V Leiden Mutation testing.
Individuals suitable for testing:
- Symptomatic patients.
- Patients with family history of thrombosis or thrombophilia-associated mutations.
- High-risk patients with personal or family history of thrombosis, recurrent spontaneous abortions, and severe early onset preeclampsia.
Heterozygous positive individuals have a 4- to 8- fold increase risk of venous thromboembolic events.
Homozygous positive individuals have a 50- to 100- increase risk of venous thromboembolic events.
Risk increases synergistically when the mutation is coupled with oral contraceptive use, increased homocysteine levels, or with factor II prothrombin 20210G>A mutation.
Test Code
CPT Codes
81241
Preferred Specimen
EDTA WHOLE BLOOD
Minimum Volume
Other Acceptable Specimens
Transport Container
LAV/1
Transport Temperature
Specimen Stability
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Methodology
Real-Time Polymerase Chain Reaction (RT-PCR)
Setup Schedule
TUESDAY MORNING.
Report Available
Reference Range
NEGATIVE
Clinical Significance
Factor V Leiden Mutation (1691G>A) is a point mutation that causes resistance of Factor V protein degradation by activated protein C (APC). This mutation is a major risk factor for venous thrombosis and lesser risk for arterial thrombosis. It is also highly associated with increased complications during pregnancy and puerperium, such as; severe preeclampsia, placental abruption, fetal growth retardation, recurrent miscarriage, stillbirth, and maternal pulmonary embolism and death.