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908 Thrombosis – mutation of factor V Leiden of gene F5 (R506Q)

Factor V Leiden is an inherited disorder of blood clotting, whichis the most common hereditary hypercoagulability disorder. Mutation frequency is estimated at ca. 16.3% (in Poland it affects 5% of the population). It shows at ca. 20% of patients with deep vein thrombosis, which develops before the age of 45. Mutation of factor V consists in replacing arginine with glutamine under item 506 of the heavy chain (R506Q).

This mutation is inherited in an autosomal dominant way. A result of the mutation is the increased level of thrombine in blood, which leads to increased risk of clots or embolism-related disorders (such as venous thrombosis, stroke, heart attack). Numerous research proves that the risk of clotting is one of the main possible complications with pregnant women.

They also may have a small increased risk of preeclampsia, may have a small increased risk of low birth weight babies, may have a small increased risk of miscarriage and stillbirth due to either clotting in the placenta, umbilical cord, or the fetus. Marking the factor V Leiden is recommended along with other blood hypercoagulability tests.

Test material: full blood (EDTA), cheek swab

Transfer method: blood: 4-10°C (a set for blood tests); cheek swab: room temperature (a set for cheek swabs)

Testing method: Direct sequencing of respective gene’s fragments

Delivery date: up to 10 business days