ATAXIA WITH OCULOMOTOR APRAXIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Ataxia with Oculomotor Apraxia panel analyzes four genes related to neurodegenerative disorders characterized by progressive ataxia, oculomotor apraxia (difficulty moving the eyes voluntarily), peripheral neuropathy, and cognitive or extrapyramidal impairments. These inherited forms, generally autosomal recessive, are associated with defects in DNA repair and the maintenance of neuronal genomic stability.
Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies pathogenic variants in genes such as APTX, PNKP, SETX, and PIK3R5, which are involved in the response to DNA damage and neuronal homeostasis. Its analysis is key for differential diagnosis of other hereditary ataxias and for family genetic counseling.
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