Test Code: ATXN8R

Genes: ATXN8OS (1 genes)

Sample Type: 3 mL peripheral blood in EDTA (purple/pink top) tube

Method: Polymerase Chain Reaction followed by Capillary Electrophoresis

Turnaround Time: 7 - 10 days

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 800

Description:
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.