ThromboStrip kit is a test based on the hybridization on strip principle that allows the identification of three mutations/gene variants associated with the risk of deep vein thrombosis.
Venous thrombosis is one of the three most frequent cardiovascular diseases nowadays, affecting one in ten individuals annually. It is caused when a blood cot is formed in a deep vein inside the body, usually the legs or the thighs, and could be partially determined by genetic predisposition.
Several mutations have been found, mainly affecting factors of the blood coagulation cascade. Among them, the G1691A mutation in the Factor V of Leiden of the coagulation is found in 20-60% of the patients suffering from thrombosis. Other mutations have also been described, such as G20210A mutation in prothrombin gene (factor II, PTB) and C677T polymorphism of MTHFR gene.
The ThromboStrip test detects three genetic variants associated with the risk of deep vein thrombosis: G1691A mutation in Factor V; G20210A mutation in prothrombin; and C677T polymorphism in methylenetetrahydrofolate reductase.
Detection of the most relevant mutations associated with the risk of venous thrombosis
Distinction of homozygosis and heterozygosis
Automated reading with scanner available
Possibility to automate the hybridization process
The presence of these mutations increases the risk of thrombosis:
Factor V gene (factor V of Leiden, G1691A). This mutation is directly related to an increased risk of suffering from thrombosis, with a high frequency (20-60%) in patients with thrombosis. The most common genotype is N/M. The homozygous mutated M/M genotype may appear, but its very unlikely.
Factor II – prothrombin (G20210A). It is associated to high plasma prothrombin levels, and is believed to increase risk of venous thrombosis by 3 to 5 times. The most frequent combination is N/M.
MTHFR gene (C677T). An elevated plasma homocysteine level (hyperhomocysteinemia) is a well-known venous and arterial thrombosis risk factor. Among the Caucasian population is very common (5-20 % prevalence) the presence of a localized mutation in MTHFR gene (C677T) in a homozygous form, leading to the production of a thermolabile enzyme variant with reduced activity. It is not always associatd with the disease, although the genotype is mutated homozygous (M/M). Any of the FVL or PTB in its genotype N/M combined with the MTHFR increases the risk of suffering the disease. It does not mean that the patient will develop blood clots, it means that the patient has an increased risk of suffering them. He might have to take anticoagulants in some circumstances in order to avoid the appearance of clots: in large periods of immobility, if the patient is subjected to high estrogen levels (pregnancy, oral contraceptives, hormone replacement), surgeries or injuries.
It reports the presence or absence of mutations related to the risk of deep vein thrombosis.
They are useful to help the medical professional to make a diagnosis, always taking into account the symptoms of the patient and other evidence. They are tests that measure risk, and therefore should not be used exclusively to make a diagnosis.