OPTICAL ATROPHY: CLINICAL EXOME PANEL (Sec. & CNVs) – 57 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Optic Atrophy Panel is designed for the genetic diagnosis of hereditary optic neuropathies, a group of diseases characterized by progressive vision loss due to optic nerve degeneration. These conditions can manifest as dominant optic atrophy, Leber hereditary optic neuropathy (LHON), or as part of mitochondrial and neurodegenerative syndromes with multisystem involvement. Symptoms include central vision loss, dyschromatopsia, scotomas, and, in some cases, neuromuscular involvement or encephalopathy. The panel analyzes genes involved in mitochondrial function, energy metabolism, mitochondrial dynamics, and optic nerve development, enabling accurate diagnosis and family genetic counseling. Genes analyzed include: OPA1, OPA3, WFS1, POLG, MFN2, TMEM126A, RRM2B, NR2F1, SPG7, TWNK, and others. You can obtain the complete list of analyzed genes by contacting Genotica.
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