CHARGE Syndrome Testing (CHD7)

CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities (including deafness)) is a rare autosomal dominant genetic disorder characterized by a specific and a recognizable pattern of anomalies. Other reported features include semicircular canal defects, thymic/parathyroid hypoplasia, facial palsy, swallowing difficulties, characteristic hands, spine abnormalities, omphalocele, and renal anomalies. Patients with CHARGE syndrome have variable expression and presentation of these features. Pathogenic variants in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Most cases appear to be de novo. However, due to the variability in expression, parents of affected individuals may be carriers. The panel includes sequence and deletion/duplication analysis of the CHD7 gene.