IRF6 Sequencing

Test Background

Patients with Van der Woude syndrome (VWS) present with one or more of the following traits: lip pits, cleft lip, and cleft palate. This condition is inherited in an autosomal dominant manner. Affected individuals usually have an affected parent, however, penetrance is incomplete. Clinical sensitivity: approximately 70% of patients with VWS have a mutation in IRF6.

Features of Popliteal Pterygium syndrome (PPS) include cleft lip with or without cleft palate, popliteal pterygia, syndactyly, abnormal external genitalia, ankyloblepharon, pyramidal skin on the hallux, and intraoral adhesions. It is inherited in an autosomal dominant manner. Affected individuals usually have an affected parent, however, penetrance is incomplete. Clinical sensitivity: approximately 97% of patients with PPS have a mutation in IRF6.

This laboratory performs Sanger sequencing of the IRF6 gene.

Disorder(s)

Popliteal pterygium syndrome

Gene(s)

IRF6

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.