GLOBAL INTELLECTUAL DISABILITY: CLINICAL EXOME PANEL (Sec. & CNVs) – 1,164 genes

The Global Intellectual Disability Panel is designed for the comprehensive study of 1,164 genes associated with neurodevelopmental disorders that affect learning, memory, language, behavior, and functional independence. Intellectual disability (ID) can manifest as an isolated condition or as part of complex syndromes that include epilepsy, dysmorphic features, structural brain abnormalities, neuromuscular disorders, or congenital malformations. This panel integrates genes involved in multiple essential biological processes, such as neurogenesis, neuronal migration, synaptogenesis, synaptic plasticity, brain energy metabolism, regulation of gene expression, and DNA repair. It also covers autosomal dominant and recessive forms, as well as X-linked forms, making it a comprehensive tool for the molecular diagnosis of patients with sporadic or familial ID. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows the identification of pathogenic or likely pathogenic variants that explain the clinical phenotype and facilitates genetic counseling, personalized clinical management, and therapeutic decision-making. Among the most relevant genes included in this panel are ARID1B, ANKRD11, MECP2, ADNP, SYNGAP1, DYRK1A, SHANK3, MED13L, TCF4, KDM5C, CREBBP, SCN2A, and CHD8, among many others involved in the regulation of neuronal development and synaptic function. The complete list of genes can be obtained by contacting Genotica.