Factor V Leiden Variant Analysis

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.

Gene(s)

F5

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.