Thrombophilia targeted mutation analysis
||Factor V, prothrombin/Factor II, MTHFR
||2-4 ml of blood with anticoagulant EDTA
300 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Indications for genetic testing:
- Venous thrombosis before the age of 50
- Recurrent venous thrombosis in family
- Identified genetic variant for higher risk of venous thrombosis in family
For women in addition to the above named:
- Myocardial infarction in 50-year-old women who are smoking
- Venous thrombosis in the period of taking oral contraceptives
- The presence of pregnancy complications, for example multiple miscarriages, preeclampsia and stillbirth.