Mutations detection in a number of genes that participate in blood clotting and they are genetic determinants for thrombosis. Such genes and their corresponding mutations are:
- Factor V Leiden (R506Q)
- Prothrombin (G20210A)
- MTHFR (C677T and A1298C)
- Factor XIII (V34L)
- PAI-1 (4G/5G)
- GPIα (C-807)
GENETIC TEST OF THROMBOPHILIA
A check is performed to detect major gene mutations:
1) Factor-V (Leiden) G1691A blood coagulation,
2) prothrombin (Factor II-G20210A),
3) of Homocysteinemia (MTHFR) C677T,
4) of Homocysteinemia (MTHFR) A1298C,
5) of the glycoprotein GPIa C807T,
6) plasminogen inhibitor activator (PAI-1) 4G / 5G,
7) of factor XIII 34Val / Leu.
The check is performed by the method of real-time PCR and the use of specific oligonucleotides of the respective genes where the main mutations in each gene have been identified (mutation-specific primers).
Detection of the major mutation of Blood Coagulation Factor-V (V-Leiden)
The cause of venous thrombosis is largely related to the presence of a specific mutation in the FACTOR V gene. This mutation, designated (G1691A), involves the replacement of one amino acid by another. In the general population, about 6-10% of men and women of Caucasian origin are heterozygous for this mutation, while the case of homozygous individuals is more rare. The presence of the mutation in the factor V Leiden gene increases the probability of thrombosis by 8 times in heterozygotes and by 80 times in homozygotes. Mutation detection justifies the occurrence of thrombosis, reveals individuals and families with a high probability of thrombosis, and provides preventive measures for individuals who have a higher risk of developing venous thrombosis.
Detection of the Prothrombin Main Mutation (Factor II-G20210A)
Prothrombin is the precursor of thrombin protease, which plays a major role in the process of hemostasis and thrombosis. Nucleotide replacement of a G base at A at position 20210 (G20210A) is directly associated with venous thrombosis. Carriers of this mutation are about three times more likely to develop thrombosis.
Detection of the main mutation of Homocysteinemia (MTHFR)
Hyperhomocysteinemia is a major cause of, among other diseases, venous thrombosis. Blood homocysteine levels are affected by both genetic and environmental factors. One of the major genetic factors is the presence of mutations in the MTHFR gene. Today, two mutations in this gene are well characterized: C677T and A1298C. Detection of mutations in the MTHFR gene is important both in determining the increased likelihood of venous thrombosis and in designing appropriate treatment.
Plasminogen Inhibitor Activator Test (PAI-1-4G / 5G)
Plasminogen Activator Inhibitor-1 (PAI-1) is the major inhibitor of fibrinolysis. When PAI-1 levels are high then fibrinolysis is inhibited and the risk of arterial or venous thrombosis increases. A mutation in the PAI-1 gene has been identified, which results in the existence of two alleles of the gene: 4G and 5G. The presence of 4G / 4G and 4G / 5G genotypes in the population amounts to 28% and 48% respectively and these genotypes have been directly associated with high levels of PAI-1 activity in plasma and consequently with an increased risk of thrombotic events. In contrast, the presence of 5G / 5G has been associated with lower plasma PAI-1 activity levels.
Detection of GPIa Glycoprotein Polymorphism (GPIa-C807T Mutation)
GPIa glycoprotein, also known as α2β1 integrin, is an important receptor for collagen in platelets. GPIa gene dimorphism at nucleotide 807 has been linked to the proper functioning of the cardiovascular system. The presence of a mutation (of the T807 allele) is associated with a higher concentration of glycoprotein on the surface of platelets, their increased adhesion to the vascular epithelium and consequently to the manifestation of vascular disease.
Detection of factor XIII polymorphism - FACTOR XIII (34VAL / LEU)
Factor XIII is an enzyme of the coagulation system, which serves to stabilize the fibrous network. The presence of the Val34Leu polymorphism in the factor XIII gene has been specifically associated with six miscarriages.