Factor V Leiden thrombophilia is characterized by a poor anticoagulant response to activated protein C and an increased risk for venous thromboembolism. The disorder is caused by homozygosity or heterozygosity for the variant c.1601G>A (p.Arg534Gln), also known as R506Q, in the gene that encodes factor V (F5). Homozygosity increases the risk of thrombotic complications to a greater extent than heterozygosity. This targeted test will specifically analyze the c.1601G>A variant and is available for testing Old Order Amish patients as well as the general population.
1 - 2 weeks