Mutation 20210A in the Prothrombin Gene
The prothrombin (factor II) mutation is observed in 1 to 3% of the Caucasian population. The prevalence of this mutation is high among patients who have presented with cerebral thrombosis (arterial or venous) or with pulmonary embolism. Homozygous carriers of mutation 20210A are very rare. Heterozygotes have a three (3) to six (6) times greater risk of presenting with a thrombotic manifestation than the normal population. Moreover, young women with the factor II mutation 20210A have a four (4) times greater risk of suffering a myocardial infarction. This relative risk is especially high when other cardiovascular risk factors are also present. Smoking increases the risk of myocardial infarction by thirty-three (33) times in young women who have the mutation 20210A, while metabolic risk factors such as diabetes, hypertension and hypercholesterolemia increase this risk by forty-three (43) times. Moreover, birth control pills increase the risk of myocardial infarction by one hundred fifty (150) times for young women with the factor II mutation 20210A, compared with those who do not carry this mutation.

Sampling and Characteristics
Screening for the prothrombin mutation 21010A is performed using a blood sample (EDTA tube – 5 ml) or a buccal swab.

Terms of Payment
In most cases, private insurance companies will cover the cost of this test.