VENTRICULOMEGALY: CLINICAL EXOME PANEL (Sec. & CNVs) - 147 genes

The Ventriculomegaly panel focuses on the genetic study of congenital and hereditary causes of cerebral ventricle dilation, a structural alteration that can occur in isolation or in association with hydrocephalus, complex brain malformations, or neurodevelopmental syndromes. Ventriculomegaly may result from alterations in neuronal proliferation, migration, and cortical organization, dysfunctions in cerebrospinal fluid drainage, or defects in the extracellular matrix and the formation of cerebral connective tissue. This panel includes genes related to congenital hydrocephalus (L1CAM, MPDZ, CCDC88C, FLNA), syndromes with ventriculomegaly associated with dysmorphism or intellectual disability (KAT6B, MED13L, AUTS2), neuronal migration and cortical development disorders (GLI3, KIF14, PI4KA, ZNF335), as well as genes involved in congenital myopathies and neuromuscular defects associated with hypotonia and ventriculomegaly (RYR1, ACTA1, NEB, SELENON). Next-generation sequencing (NGS) analysis allows for the identification of pathogenic variants in genes involved in brain and neuromuscular development, providing an essential tool for differential diagnosis and family genetic counseling, especially in prenatal cases or those with a family history of brain malformations. Genes analyzed: L1CAM, FLNA, KAT6B, MED13L, GLI3, KIF14, ZNF335, RYR1, ACTA1, SELENON, and others. You can consult the complete list of analyzed genes by contacting Genotica.