The Utility of Genome Sequencing as a Diagnostic Tool for Children with Ataxia

Introduction

• Ataxia is a neurological condition characterized by a lack of muscle coordination resulting in gait instability, impaired fine motor skills, and difficulty with balance and speech.
• Ataxia can be acquired or inherited, with a heterogeneous group of these disorders including short tandem repeat (STR) disorders, mitochondrial genome disorders, and copy number variants.
• Compared to exome sequencing (ES) or traditional panel-based testing, genome sequencing (GS) enables a more comprehensive analysis of multiple variant types in a single test, allowing for higher diagnostic yields for genetically and phenotypically heterogenous conditions such as ataxia.
• However, the diagnostic utility of GS in pediatric cohorts with ataxia is still being assessed and is not
  well-described in the literature.
• Here, we describe our clinical laboratory experience with GS and testing individuals with ataxia.