Spinocerebellar Ataxia and Related Disorders Panel
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.
Special Instructions
Not provided.
Limitations
This panel excludes repeat-expansion disorders, so pathogenic expansions are not detected (repeat expansions account for approximately 50% of ataxias). Only sequence and deletion/duplication analyses are performed; rare diagnostic errors may occur due to primer/probe site mutations or rare polymorphisms.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Other tests from different labs that may be relevant