HOXA1 Sequencing

Test Background

HOXA1 is associated with Athabaskan brainstem dysgenesis syndrome (ABDS) and Bosley-Salih-Alorainy syndrome (BSAS). ABDS is common in several Native American tribes and is characterized by congenital horizontal gaze palsy, deafness, and central hypoventilation. All patients have developmental delay. Less common features include heart defects and seizures. BSAS is seen in both the Saudi Arabian and Turkish populations. All individuals have bilateral Duane syndrome and most have sensorineural deafness and developmental delay. Less common features include external ear defects and autism spectrum disorder. Both conditions are inherited in an autosomal recessive manner.



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.

Leave a Comment