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. We offer full gene sequencing of all coding exons and intron/exon boundaries of ARX by direct sequencing of amplification products in both the forward and reverse directions. ARX sequencing is also available as part of our Early Infantile Epileptic Encephalopathy (EIEE) panel, our Classic and Comprehensive Lissencephaly panels, and our X-Linked and Comprehensive Intellectual Disability panels. Please see our information sheet for more details.
Specimen Types Accepted