Test Code: ATXN8R
Spinocerebellar Ataxia - Type 12 (ATXN8OS)
Neurogenetics
Spinocerebellar Ataxia Type 12 (SCA12) is a very rare autosomal dominant cerebellar ataxia, most often linked to CAG repeat expansions in the PPP2R2B gene, and clinically characterized by action tremor, relatively mild cerebellar ataxia, and sometimes pyramidal/extrapyramidal signs or cognitive decline.
Sample Type
3 mL peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
7 - 10 days days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
1 genes
ATXN8OS
Methodology
Polymerase Chain Reaction followed by Capillary Electrophoresis
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