Use

The Spinocerebellar Ataxia and Related Disorders Panel evaluates a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive incoordination, dysarthria, dysphagia, nystagmus, and cerebellar atrophy. This panel is intended to assist in diagnosis when combined with clinical evaluation, family history, and neuroimaging, and it includes sequencing and deletion/duplication analysis of genes associated with autosomal dominant and recessive hereditary ataxias, excluding repeat-expansion disorders. Approximately 50% of ataxia is due to repeat expansions, about 20% due to sequence-based changes detected here, with remaining causes being acquired or undetermined.