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981 Panel of predisposition for genetically conditioned thromboembolism disorders – gene of prothrombin F2, factor V F5 and MTHFR

The test covers a panel of testing which consists in analyzing mutations in genes responsible for predisposition for genetically conditioned thromboembolism disorders. Polymorphism of gene MTHFR analyzed along with mutations: Leiden (G1691A) of gene of factor V and gene of prothrombin F2 (G20210A) allows for estimating the risk of suffering from thromboembolism disorders in the organism.

 

It is estimated that the risk of developing thromboembolism disorders with people who hold a mutation G20210A grows 2-3-fold, and in combination with Leiden mutation of gene of factor V even 10-20-fold. Genetic predisposition leads to a number of dangerous symptoms (such as venous thrombosis, arteriosclerosis, stroke, heart attack). Numerous research proves that venous embolism is one of the main reasons for complications with pregnant women.

They do not only influence morbidity and mortality of pregnant women and in the postnatal period, but they are also the reason for problems with completing pregnancy: embryo implantation disorders, defects in operations of fetal-placental unit, detachment of the placenta, intrauterine fetus growth defects as well as idiopathic and recurring miscarriages.

Etiology of venous embolism is, however, complex and multifactorial. Apart from the above mentioned genetic conditioning, also environment factors have influence here, such as: smoking, taking oral contraception drugs, obesity, advanced age, long-lasting morning nausea or infections. It should be remembered that genetically conditioned increase of risk for thromboembolism disorders should influence decisions in respect of drug selection and changes in the life style (healthy diet, physical exercises, etc.).

Test on predisposition is particularly recommended to women who plan to be pregnant or are pregnant, in cases of supported child-birth, after previous miscarriages and in diagnostics of blood hypercoagulability. It is also recommended to patients who are temporarily immobilized or await surgeries leading to temporary immobilization, to people who work in a sitting position, people who travel by plane or by car on long distances, with a view to introducing appropriate thrombosis prophylaxis.

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 14 business days