Test Code: ATXN1R

Spinocerebellar Ataxia - Type 1 (ATXN1)

Neurogenetics
Spinocerebellar Ataxia Type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the ATXN1 gene on chromosome 6p22.3. This test uses a specialised PCR-based technique to detect CAG repeat expansions in the ATXN1 gene associated with Spinocerebellar Ataxia Type 1.
Sample Type
3 mL of peripheral blood in EDTA
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

Genes Analyzed

1 genes
ATXN1

Methodology

Polymerase Chain Reaction followed by Capillary Electrophoresis

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