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Table 3 Recommendation of ACMG (American College of Medical Genetics and Genomics)

From: Frequency of thrombophilia associated genes variants: population-based study

Main recommendation in patients:
 1. before the age of 50 with first unprovoked VTE or with recurrent VTE
 2. with VTE when the results of it may influence the treatment and clinical decisions
 3. with at least two VTE in the family or VTE cases which occurred in relatives of the first generation at an early age
May be considered in several circumstances:
 4. like smoking females under the age of 50 with a history of acute myocardial infarction
 5. in siblings of individuals known to be homozygous for factor V Leiden or factor II c.*97G > A
 6. in an asymptomatic pregnant woman or a woman considering pregnancy, with first degree relatives with unprovoked VTE or VTE caused by pregnancy or by use of contraception can be considered to undergo this test
 7. in a pregnant woman’s family and a woman planning to conceive, the first degree relative who is the carrier of mutation Leiden and / or factor II c.* 97G > A and a history of VTE
 8. in women who plan to start taking contraceptives or have hormone replacement therapy
The ACMG does not recommend routine testing for patients with a personal or family history of coronary artery disease or ischemic stroke