Test kit identifies genetic risk of thrombosis

Astra Biotech's new genetic test kit which identifies hereditary thrombophilia – a significant risk factor in the development of potentially life-threatening deep vein thrombosis and pulmonary embolism. In line with the company’s aim of facilitating disease prevention and improving quality of life, the Astra Thrombosis kit detects three common mutations which disrupt the blood coagulation mechanism.

The consequences of thrombosis can be severe – pulmonary embolism (PE), myocardial infarction, stroke and infertility – and 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 Astra Thrombosis kit enables identification of hereditary thrombophilia and estimation of a patient’s risk of developing DVT and PE. Following extraction of the patient’s total DNA sample from blood tissue or epithelium, three single nucleotide polymorphisms in the F5, F2 and MTHFR genes can be simultaneously detected using the kit. The method is multiplex PCR with subsequent restriction and polyacrylamide or agarose gel electrophoresis. The diagnostic kit includes two PCR mixes, positive controls, DNA-polymerase, restriction enzyme and buffer.

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.

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