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911 Thrombosis – mutation of prothrombin gene F2 (G20210A)

Prothrombin belongs to the family of plasma proteins, which as a result of breaking blood vessels become activated and take part in the process of blood coagulation. As a result of a mutation of gene c.20210G>A ofprothrombin, there is a process of its increased synthesis and blood accumulation. Therefore, mutation carriers are exposed to the increased risk of clots or embolism-related disorders (such as venous thrombosis, stroke, heart attack).

This increased risk also matters for pregnant women. Being a carrier of mutation c.20210G>A increasessubstantially the risk of miscarriage in the I trimester and numerous pathologies in III trimester, such as, among others, detachment of the placenta or hampering fetus growth. It is estimated that the risk of clotting changes with people carrying a mutation c.20210G>A of gene of prothrombin grows 2-3 times, and in connection with the mutation of a gene of the factor V Leiden it even grows 10-20 times. Genetic conditioning for the risk of clotting or embolism-related disorders should influence a decision to choose proper treatment and introduce changes to one's life style (good diet, keeping fit, etc.).

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