ARX Sequencing

Test Background

Variants in ARX cause a form of nonsyndromic X-linked intellectual disability, lissencephaly, Proud syndrome, infantile spasms without brain malformations, and Partington syndrome. X-linked lissencephaly-2 (LISX2) is characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype. Proud syndrome is characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity. Males are severely affected, whereas females may be unaffected or have a milder phenotype. Partington syndrome is characterized by intellectual disability and variable movement disturbances. This laboratory performs Sanger sequencing for ARX.

Disorder(s)

Lissencephaly

Gene(s): 

ARX

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.