NEURODEVELOPMENTAL DISORDERS: CLINICAL EXOME PANEL (Sec. & CNVs) - 266 genes

The Neurodevelopmental Disorders Panel is designed for the genetic study of a broad spectrum of neurodevelopmental disorders that manifest as intellectual disability, global developmental delay, epilepsy, language disorders, autism, micro- or macrocephaly, hypotonia, behavioral disorders, or motor and learning difficulties. These conditions can have very diverse genetic causes, including monogenic mutations, chromosomal abnormalities, and copy number variations (CNVs). Among the pathologies included are Rett syndrome (MECP2), Angelman syndrome (UBE3A), Fragile X syndrome (FMR1), Kabuki syndrome (KMT2D, KDM6A), Kleefstra syndrome (EHMT1), Pitt-Hopkins syndrome (TCF4), CHARGE syndrome (CHD7), ADNP syndrome, Phelan-McDermid syndrome (SHANK3), Mowat-Wilson syndrome (ZEB2), Smith-Magenis syndrome (RAI1), Cornelia de Lange syndrome (NIPBL, SMC1A, SMC3), Coffin-Siris syndrome (ARID1B, SMARCB1), Rett-like syndrome (CDKL5, FOXG1), tuberous sclerosis syndrome (TSC1, TSC2), Noonan syndrome (PTPN11, SOS1), and other forms of X-linked intellectual disability, epileptic encephalopathies, and neuronal migration disorders. Next-generation sequencing (NGS) allows for the identification of pathogenic variants in key genes involved in neuronal maturation, synaptogenesis, migration, and brain plasticity, providing a precise molecular diagnosis and guiding clinical management, prognosis, and genetic counseling. Genes analyzed include: MECP2, FMR1, CHD8, SHANK3, SYNGAP1, SCN2A, ADNP, ARID1B, TCF4, PTEN, and others. For a complete list of analyzed genes, please contact Genotica.