Factor V (FV) is a blood coagulation factor. The presence of FV 1691G>A mutation, known as FV Leiden, leads to the synthesis of a modified protein. This protein, presenting APC- resistance, increases the risk of venous thrombosis episodes. FV Leiden is detected in about 50% of familial thrombophilia cases and it is responsible for 20-40% of thrombosis events. Approximately 5% of the general population carries the FV Leiden mutation. The heterozygous presence of the mutation increases 5 to 8 times the risk of thrombosis, while the respective risk increases 30 to 100 times in case of FV Leiden mutation homozygosity.
Factor V 4070G>A (H1299R) mutation, known as FV R2, correlates with a moderate increase in the risk of thrombosis, especially for those carrying the FV Leiden mutation.
The analysis is carreid out using ARMS-PCR for the detection of FV 1691G>A (Leiden) and 4070G>A (R2) mutations.
Sample type: Peripheral blood in EDTA
Time to result: 1 week