Institutional Price 
6 weeks
CPT Code 
Test Code 
Test Methods 
Exome sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Cultured Cells
Extracted DNA
Please see attached excelsheet in document section for a downloadable list of genes analyzed for the Ataxia Exome Panel.

Ataxias are a heterogeneous group of neurological disorders affecting individuals of all age groups and are characterized by the incoordination of voluntary movements. Features can include cerebellar dysfunction involving disturbance of stance, gait, eye movements, muscle tone, skilled movements and speech.

The Ataxia Exome Panel involves analysis of exome sequencing data in a predefined set of 484 genes associated with ataxia and assembled by research and clinical experts in the field. These include genes known to be associated with ataxia as the predominant feature, genes associated with ataxia as part of the phenotype, and genes speculated to be involved in an ataxia phenotype based on expert opinion.

Note: This test does not screen for trinucleotide repeat expansions that are the known cause of the majority of SCAs, autosomal recessive Friedreich’s ataxia and a variety of other hereditary forms of ataxia. Testing for trinucleotide repeat expansions is not currently offered by this laboratory and it is recommended that testing for SCA 1-3, 6, 7 and Freidreich’s ataxia be considered prior to ordering the Ataxia Exome Panel.