MSX1 Sequencing

Test Background

Patients with Witkop syndrome have varying degrees of missing teeth and poorly formed fingernails and toenails. It is inherited in an autosomal dominant manner. Orofacial Cleft 5 is nonsyndromic and presents with varying degrees of cleft lip with and without cleft palate. Tooth Agenesis is characterized by oligodontia. 75% of patients with mutations in MSX1 have absence of the maxillary first premolars. These conditions are inherited in an autosomal dominant manner.

This laboratory performs Sanger sequencing of the MSX1 gene.

Gene(s): 

MSX1

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.