Test Background

The common Factor V Leiden mutation, c.1691G>A (p.R506Q), causes autosomal dominant thrombotic tendency and resistance to activated protein C (APC). More than 90% of APC-resistant individuals have this specific mutation. This test neither explores the possibility of a mutation in another region of the gene nor tests for mutations in other genes that may be risk factors for the disease(s) seen in this patient. This laboratory performs targeted mutation analysis for p.R506Q.