Spinocerebellar Ataxia type 1 (SCA1)

Test Information
Test Name Spinocerebellar Ataxia type 1 (SCA1)
Lab (Location) North York General Hospital
Category Neurogenetics
Subcategory Spinocerebellar Ataxia (SCA)
Gene/Platform/Region List ATXN1 (CAG repeats)
Test type Single Gene
Samples Accepted Blood, DNA, Cultured Cells, Amniocyte, CVS
Indications Diagnosis Diagnosis, Carrier / Cascade Testing
Test Methodology Electrophoresis, PCR
Methodology Notes TP-PCR and fragment analysis
Diseases/Conditions Spinocerebellar ataxia type 1 (SCA1)