|Values are valid only on day of printing.|
Diagnosing individuals with Friedreich ataxia
Monitoring frataxin levels in patients with Friedreich ataxia
Friedreich ataxia (FA) presents most commonly between 10 to 15 years of age with progressive neurologic changes including spasticity and ataxia.
Decreased frataxin protein levels are diagnostic of FA and can be utilized for monitoring known patients.
Frataxin protein analysis is a cost-effective and quick method for establishing a diagnosis of FA and will detect rare variants otherwise missed by common molecular-based trinucleotide repeat analysis.