Mutations in the ARX gene have been identified in patients with X-linked lissencephaly with ambiguous genitalia (XLAG), West syndrome/cryptogenic infantile spasms, and X-linked mental retardation (MRX). Preliminary findings and ongoing studies suggest that about 100% of patients with a clinical diagnosis of XLAG have mutations in the ARX gene, while up to 10% of patients with a clinical diagnosis of West syndrome/cryptogenic infantile spasms and MRX may have mutations in the ARX gene. Pathogenic deletions and/or duplications in the ARX gene have been reported. ARX deletion/duplication is available as an individual test or as part of our Early Infantile Epileptic Encephalopathy (EIEE) panel, Classic Lissencephaly panel and Comprehensive Lissencephaly panel. Please see our information sheet for more details.
Specimen Types Accepted
If sending saliva, 2 kits are required.