Factor V Leiden (F5) Targeted Testing
AKA: Thrombophilia due to Activated Protein C Resistance
Short Name: F5 Targeted
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 F5 gene variant c.1601G>A (p.Arg534Gln), also known as R506Q or factor V Leiden. 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.
CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 188055
MedGen: 396074