Test Code: ATXN6R
Spinocerebellar Ataxia - Type 6 (CACNA1A)
Neurogenetics
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.
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
CACNA1A
Methodology
Capillary Electrophoresis followed by Capillary Electrophoresis
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