The Spinocerebellar Ataxias are a family of autosomal dominant neurodegenerative disorders. All  belong to a class of conditions resulting from an unstable expansion of a CAG repeat region within the gene. They are typically adult onset disorders, but severe cases can be expressed in childhood.  Each SCA syndrome has subtle differences in clinical symptoms, but they generally overlap. 

In order to most efficiently and economically deal with the problems in diagnosis, the individual tests for SCA 1*, 2, 3, 6, and 7 have been incorporated into a single panel. For complete details of each condition, please refer to the individual tests.

• Individuals with ataxia or other neurological motor symptoms.
• To discriminate between conditions with overlapping clinical symptoms in an affected individual.
• Individuals at risk who wish prenatal diagnosis.

• For ambiguous patients, also see Neurological Panel.

• Fluorescent PCR sizing of the trinucleotide repeat region of the gene.

• Blood EDTA (purple top) tubes:  

            Newborn: minimum 1-2 mL          

            Child/Adult: prefer 2 tubes of 3-5 mL

• Prenatal testing: Please contact the laboratory for instructions.

TURNAROUND TIME:     15 working days

CPT CODES:    

(SCA1 performed on an investigational basis only)