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Test Catalog

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

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Secondary ID A test code used for billing and in test definitions created prior to November 2011

60476

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

Conditional

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

Diagnosing individuals with Friedreich ataxia

 

Monitoring frataxin levels in patients with Friedreich ataxia

Highlights

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

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

Luminex Immunoassay

Reporting Name A shorter/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)
FXN
FRDA