FFRBS - Overview: Friedreich Ataxia, Frataxin, Quantitative, Blood Spot

Test Catalog

Test Name

Test ID: FFRBS    
Friedreich Ataxia, Frataxin, Quantitative, Blood Spot

Useful For Suggests clinical disorders or settings where the test may be helpful

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 Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

Method Name A short description of the method used to perform the test

Luminex Immunoassay

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter or abbreviated version of the Published Name for a test; an abbreviated test name

Frataxin, Quant, BS

Aliases Lists additional common names for a test, as an aid in searching

Friedreich ataxia (FA)