Ataxia Repeat Expansion Analysis

Ataxia Repeat Expansion Analysis is a genetic test designed to identify pathogenic nucleotide repeat expansions associated with hereditary ataxia and related neurological disorders. The analysis targets specific genes and repeat regions associated with these conditions using validated repeat expansion detection methods.
Ataxia and Repeat Expansion Analysis is a targeted molecular test designed to detect disease-associated nucleotide repeat expansions in genes linked to inherited neurological and genetic disorders. The test evaluates repeat expansions in ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, PPP2R2B, FXN, and FMR1, associated with Spinocerebellar Ataxia Types 1, 2, 3, 6, 7, and 12, Friedreich ataxia, and Fragile X–associated disorders, respectively.

This analysis supports the molecular diagnosis of selected repeat expansion disorders. Detection and interpretation are limited to the genes and repeat regions covered by the validated assay.