Friedreich Ataxia, Frataxin, Quantitative, Blood Spot
Diagnosing individuals with Friedreich ataxia in blood spot specimens
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.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Frataxin, Quant, BS
Friedreich ataxia (FA)