NEURO-OPHTHALMOLOGICAL DISEASES: CLINICAL EXOME PANEL (Sec. & CNVs) – 56 genes
Delivery time
3-4 weeks
Sample
Blood
The Neuro-Ophthalmological Diseases panel analyzes 56 genes associated with genetic disorders that simultaneously affect the central or peripheral nervous system and visual function, including hereditary optic neuropathies, optic atrophies, neurodegenerative syndromes with ocular involvement, and mitochondrial encephalopathies with visual impairment. These pathologies can manifest with progressive vision loss, ptosis, ophthalmoplegia, nystagmus, pupillary abnormalities, ataxia, or muscle weakness. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of variants in genes involved in mitochondrial function, axonal transport, energy metabolism, and optic nerve development. Among the most relevant genes included in this panel are OPA1, OPA3, POLG, MFN2, TIMM8A, TWNK, WFS1, and PAX6, among others. You can consult the rest of the analyzed genes by contacting Genotica.
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