Test & specimen information
Friedreich ataxia
Overview
Friedreich ataxia (FRDA) is characterised by slowly progressive ataxia which becomes apparent between 10 and 15 years old. FRDA is typically associated with muscle weakness which affects speech, heart function, spasticity in the lower limbs, and scoliosis. Approximately one third of individuals with FRDA will also develop diabetes mellitus.
Test type
Fragment analysis
Polymerase chain reaction (PCR)
Genes tested
Turnaround time
Diagnostic & predictive: 8 weeks
Prenatal: 3 weeks
Notes
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