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Test for the genotyping of mutations associated with thrombosis risk

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.

deteccion mutaciones relevantes asociadas riesgo trombosis venosa

Detection of the most relevant mutations associated with the risk of venous thrombosis

distincion homocigosis heterocigosis 1

Distinction of homozygosis and heterozygosis

lectura mediante scanner

Automated reading with scanner available

automatiza proceso hibridacion

Possibility to automate the hybridization process

Our products for the genotyping of mutations associated with thrombosis risk

Product
Technique
Sample
Promotional Sheet
CE Decl.
Instruct.
Catalogue No.
ThromboStrip
Hybridization on Strip
DNA extracted from blood, saliva or tissues
3.117.016.53.000

The detection of the most widely recognized and agreed mutations worldwide allows for better patient management.

The possibility of detecting mutations in homozygosis or heterozygosis facilitates the treatment and management of the patient. In addition, it also allows family studies of this genetic condition.

The interpretation of the test is very simple, as it is performed visually with the help of a control strip template. In addition, a scanner with a specific program designed for the product can be used to facilitate reading and storing the results.

The hybridization process can be performed manually or using an automated system, so that the user only has to set up the reagents and strips, and remove the developed strips once the process is finished. This reduces the time that the user has to dedicate to the process.

Publications

N.º
Title
Link
Language
C1
Factor V Leiden, Prothombion and Methylenetethrahydrofolatereductase gene mutation in patients with Preeclamsia, Intrauterine Growth Restriction and Placental abruption
English
A1
Factor V Leiden, Prothombion and MTHFR mutation in patients with Preeclamsia, Intrauterine Growth Restriction and Placental abruption
English
A2
Inherited Thrombophilia in a Lebanese Family of Four Generations: A Case Report of Recurrent Miscarriage
English
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    Frequently Asked Questions

    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.