AUTISM SPECTRUM DISORDERS (AUTISM) CLINICAL EXOME PANEL (Sec. & CNVs) - 318 genes

The Autism Spectrum Disorders (ASD) panel is designed for the comprehensive genetic study of neurodevelopmental disorders, including autism and related forms, characterized by impairments in social communication, difficulties in interaction, restricted interests, and repetitive behaviors. The spectrum includes diverse clinical entities that may present in isolation or in association with other neurological, cognitive, or somatic manifestations. This panel covers the main genetic syndromes associated with ASD, such as Rett syndrome (MECP2), Fragile X syndrome (FMR1), Angelman syndrome (UBE3A), Phelan-McDermid syndrome (SHANK3), Cowden syndrome (PTEN), Tuberous Sclerosis syndrome (TSC1, TSC2), Neurofibromatosis type 1 syndrome (NF1), CHARGE syndrome (CHD7), Kleefstra syndrome (EHMT1), ADNP syndrome, Christianson syndrome (SLC9A6), Pitt-Hopkins syndrome (TCF4), Smith-Magenis syndrome (RAI1), Kabuki syndrome (KMT2D, KDM6A), and other syndromic and non-syndromic forms of autism, epilepsy, and intellectual disability. The identification of pathogenic variants through next-generation sequencing (NGS) allows for a precise etiological diagnosis, essential for individualized clinical management, treatment planning, identification of associated comorbidities, and family genetic counseling. Genes analyzed: MECP2, FMR1, CHD8, PTEN, SHANK3, SCN2A, SYNGAP1, ADNP, CNTNAP2, GRIN2B, and others. You can consult the complete list of analyzed genes by contacting Genotica.