Test Code: ATXN1R

Genes: ATXN1 (1 genes)

Sample Type: 3 mL of peripheral blood in EDTA

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 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.