SEPTO-OPTIC DYSPLASIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 24 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Septo-Optic Dysplasia panel analyzes 24 genes associated with a heterogeneous group of congenital brain development disorders, including optic nerve hypoplasia, midline anomalies (such as absence of the septum pellucidum or corpus callosum), and pituitary dysfunction. These alterations can manifest as visual impairment, growth retardation, hypoglycemia, multiple endocrine disorders, and varying degrees of intellectual disability or brain malformations. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of pathogenic variants in genes involved in brain organogenesis, SHH and FGF signaling, regulation of neuronal differentiation, and development of the hypothalamic-pituitary axis. Among the most relevant genes included in this panel are HESX1, SOX2, OTX2, FGFR1, GLI2, SHH, PAX6, and LHX4, among others. The complete gene list can be obtained by contacting Genotica.
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