SPINOCEREBELLAR ATAXIAS & RELATED DISORDERS: CLINICAL EXOME PANEL (Sec. & CNVs) – 95 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Spinocerebellar Ataxias and Related Disorders panel analyzes 95 genes involved in a broad spectrum of inherited neurological disorders that primarily affect the cerebellum and spinal cord, causing progressive impairments in coordination, balance, and fine motor skills. These diseases can present as autosomal dominant or recessive forms and are sometimes associated with peripheral neuropathy, epilepsy, dystonia, or cognitive decline. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of pathogenic variants in genes involved in synaptic function, axonal integrity, calcium homeostasis, and mitochondrial metabolism. Among the most relevant genes included in this panel are ATXN1, ATXN2, ATXN3, CACNA1A, KCNC3, PRKCG, SYNE1, SPTBN2, FXN, and SPG7, among others. You can consult the complete list of genes by contacting Genotica.
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