Genetic Test Kit Identifies Hereditary Thrombophilia

A genetic test kit identifies hereditary thrombophilia, a significant risk factor in the development of potentially life-threatening deep vein thrombosis and pulmonary embolism (PE).

The kit uses a multiplex polymerase chain reaction (PCR) followed by restriction and polyacrylamide or agarose gel electrophoresis. The diagnostic kit includes two PCR mixes, positive controls, DNA-polymerase, restriction enzyme, and buffer. After a patient’s total DNA sample is extracted from blood tissue or epithelium, the kit can simultaneously detect three single nucleotide polymorphisms in the F5, F2, and MTHFR genes.

Testing for hereditary thrombophilia is recommended in various circumstances, such as venous embolism occurring before the age of 50, repeatedly, or during pregnancy or the postnatal period, and for members of families with expressed hereditary thrombophilia.

The consequences of thrombosis can be severe – pulmonary embolism (PE), myocardial infarction, stroke, and infertility. Thrombosis is one of the most widespread causes of morbidity and mortality in developed countries. Hereditary thrombophilia, the propensity to develop thrombosis, is an important factor influencing development of deep vein thrombosis (DVT) and PE. Additional risk factors include pregnancy, prolonged immobilization, surgical intervention, injury, and smoking.

The genetic test kit that identifies hereditary thrombophilia was introduced by Astra Biotech GmbH (Luckenwalde, Germany). The kit detects three common mutations, which disrupt the blood coagulation mechanism.

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Astra Biotech GmbH