The largest grouping of common disorders with ataxia include Huntington disease (HD), Dentatorubral-Pallidoluysian Atrophy (DRPLA), Friedreich ataxia (FRDA) and the Spinocerebellar Ataxias (SCAs). With the exception of FRDA (recessive), these disorders are autosomal dominant neurodegenerative disorders (see individual test listing for fuller descriptions). They are typically adult onset disorders but severe cases can be expressed in childhood.  Each disorder has differences in clinical symptoms but the differences are often subtle and the generally overlap. 

In order to most efficiently and economically deal with the problems in diagnosis the Ataxia Neurological Panel combines the individual tests for HD, DRPLA, FRDA and  SCA 1, 2, 3, 6, and 7 into a panel that can be ordered as a separate test. All the disorders incorporated into the panel belong to a class of trinucleotide repeat conditions in which there is an unstable expansion of the repeat in the gene.

• 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.

• 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)