Comprehensive Ataxia Package

It is a comprehensive genetic testing service designed to identify genetic causes of hereditary ataxia and related neurological disorders. It combines genome-based analysis of 193 genes associated with ataxia using next-generation sequencing (NGS) with repeat-expansion analysis. Findings from both testing methods are consolidated into a single clinical report.

Ataxias are a group of neurological disorders characterized by impaired coordination, balance difficulties, gait abnormalities, speech impairment, abnormal eye movements, and other neurological manifestations. These conditions may present during childhood or adulthood and can follow autosomal dominant, autosomal recessive, X-linked, or mitochondrial inheritance patterns.

By combining genome-based NGS analysis and repeat-expansion testing, the package enables the investigation of a broad range of genetic causes of ataxia, including sequence variants and repeat expansions that may not be reliably detected by standard NGS analysis alone.

The results may support clinical diagnosis, guide further investigations and clinical management, and provide valuable information for genetic counseling and family planning.