Test Code: ATXN6R

Genes: CACNA1A (1 genes)

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

Method: Capillary Electrophoresis 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 6 (SCA6) is a rare, late-onset, progressive neurological disorder characterised by impaired coordination and cerebellar dysfunction, most often resulting from a CAG trinucleotide repeat expansion in exon 47 of the CACNA1A gene; it follows an autosomal dominant inheritance pattern, meaning that a single mutated copy of the gene is sufficient to cause disease.