AGENESIS/DYSGENESIS OF THE CORPUS CALLOSUM: CLINICAL EXOME PANEL (Sec. & CNVs) – 128 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Corpus Callosum Agenesis/Dysgenesis panel analyzes 128 genes associated with congenital malformations of brain development that affect the formation or structure of the corpus callosum, the main interhemispheric connection pathway of the brain. These alterations can occur in isolation or as part of complex genetic syndromes, frequently accompanied by intellectual disability, epilepsy, psychomotor delay, craniofacial or endocrine abnormalities.
Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies variants in genes related to neurogenesis, neuronal migration, ciliary signaling, and axonal patterning, such as ARX, L1CAM, ZEB2, FGF8, GLI3, FOXG1, ATRX, and TUBA1A, among others. The complete list of genes can be obtained by contacting Genotica.
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