SPASTIC ATAXIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Spastic Ataxia Panel analyzes seven genes involved in neurodegenerative disorders characterized by a combination of progressive cerebellar ataxia and pyramidal spasticity, with varying degrees of impairment in strength, balance, and coordination. These forms can present as pure or complex hereditary spastic ataxias, with additional motor neuron involvement, peripheral neuropathy, or cognitive impairment. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies mutations in genes associated with mitochondrial function, axonal transport, and synaptic integrity, such as AFG3L2, KIF1C, MARS2, MTPAP, SACS, SPG7, and VAMP1. Analysis of these genes facilitates differential diagnosis with hereditary spastic paraplegias and other progressive ataxias.
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