Genetic testing of thrombophilia

Genetic testing of thrombophilia is indicated in cases of pregnancy, before granting and receiving contraceptive drugs and in cases of family history of cardiovascular disease.


Isolation of DNA from peripheral blood is performed, as well as amplification of desired genes by multiple polymerase chain reaction (multiplex PCR). The amplified products, which are first confirmed by agarose gel electrophoresis, are hybridized with specific oligonucleotides. Moreover, detection of mutant genes is performed using chromophoric substances.

Biological material

Biological material is taken from the peripheral blood, which is then put in a sterile tube with EDTA anticoagulant.

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