X-LINKED INTELLECTUAL DISABILITY: CLINICAL EXOME PANEL (Sec. & CNVs) – 143 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The X-Linked Intellectual Disability Panel analyzes 143 genes associated with inherited forms of intellectual disability (ID) transmitted in an X-linked recessive pattern, primarily affecting males, although female carriers may present with varying clinical manifestations. These genetic alterations impact fundamental neurodevelopmental processes, such as neurogenesis, synaptogenesis, neuronal migration, synaptic plasticity, and the regulation of protein transcription and translation. The panel allows for the detection of point mutations, insertions, deletions, and copy number variations (CNVs) using next-generation sequencing (NGS), offering a comprehensive approach to the molecular diagnosis of patients with isolated or syndromic intellectual disability, epilepsy, autism, hypotonia, language disorders, and behavioral disorders. Among the most relevant genes included are FMR1 (Fragile X syndrome), MECP2 (Rett syndrome and variants), ARX, ATRX, CDKL5, CASK, PQBP1, OPHN1, SLC6A8, NLGN3, NLGN4X, IQSEC2, KDM5C, HUWE1, and RPS6KA3, among others involved in neuronal development and function. You can consult the complete list of genes by contacting Genotica.
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