CONGENITAL CENTRAL HYPOVENTILATION SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 21 genes

The Congenital Central Hypoventilation Syndrome panel is designed for the genetic diagnosis of this autonomic respiratory control disorder, characterized by more pronounced alveolar hypoventilation during sleep, hypoxemia, and hypercapnia, in the absence of structural pulmonary, neuromuscular, or cardiac disease. This condition, also known as Ondine's syndrome, can occur in isolation or in association with other manifestations of the congenital dysautonomia spectrum or central nervous system dysmorphisms. The study includes key genes involved in the development and function of the autonomic and respiratory nervous systems (PHOX2B, PHOX2A, MECP2, ASCL1, BDNF), neurocritical and ganglionic signaling (RET, EDN3, GDNF, GFRA1, ZEB2), as well as genes related to neuromuscular transmission and diaphragm activity (CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, SCN4A, SLC6A5, GLRA1). Identifying pathogenic variants allows for confirmation of the molecular diagnosis, establishment of the risk of familial involvement, and guidance of respiratory, neurological, and genetic management of patients. Key genes analyzed include: PHOX2B, RET, EDN3, CHAT, MECP2, GDNF, GFRA1, SCN4A, and others. For a complete list of analyzed genes, please contact Genotica.