SALL4 Sequencing

Test Background

SALL4-related disorders include a spectrum of phenotypes including Duane radial ray syndrome (DRRS), acro-renal-ocular syndrome (AROS), and rarely Holt-Oram syndrome. DRRS is characterized by Duane anomaly and radial ray malformations. AROS is characterized by radial ray malformations, renal abnormalities, and ocular abnormalities such as Duane anomaly. Some individuals may have sensorineural hearing loss. SALL4-related disorders are inherited in an autosomal dominant manner and are 95% penetrant depending on the mutation.

This laboratory performs Sanger sequencing of the SALL4 gene.

Disorder(s)

Holt-Oram syndrome

Gene(s)

SALL4

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.