Test Catalog

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

 

This test is not useful for carrier detection.

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Highlights

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.

 

This dried blood spot assay is available for the diagnosis of individuals with Friedreich ataxia and monitoring frataxin levels in known patients, regardless of the individual's age.

Special Instructions Library of PDFs including pertinent information and forms related to the test

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

Luminex Immunoassay

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Frataxin, Quant, BS

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

Friedreich ataxia (FA)
FXN
FRDA