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Order Code FFRWB Friedreich Ataxia, Frataxin, Quantitative, Blood

Reporting Name

Frataxin, Quant, WB

Useful For

Diagnosing individuals with Friedreich ataxia in whole blood specimens

 

Monitoring frataxin levels in patients with Friedreich ataxia

 

This test is not useful for carrier detection.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole blood


Necessary Information


Provide a reason for testing with each specimen.



Specimen Required


Collection Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium or lithium heparin)

Specimen Volume: 2 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.


Specimen Minimum Volume

1.25 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Frozen (preferred) 70 days
  Ambient  70 days
  Refrigerated  70 days

Reference Values

Pediatric (<18 years) normal frataxin: ≥19 ng/mL

Adults (≥18 years) normal frataxin: ≥21 ng/mL

Day(s) Performed

Twice per month, Thursday

CPT Code Information

83520

Method Description

The immunoassay utilizes frataxin-specific monoclonal antibodies bound to Luminex microspheres as capture antibodies and biotinylated frataxin-specific polyclonal antibodies as detection antibodies. Streptavidin-phycoerythrin attaches to the biotin and when exposed to light at 352 nM emits a photon that is measured and that signal is used to determine the amount of frataxin in the sample.(Oglesbee D, Kroll C, Gakh O, et al. High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood. Clin Chem. 2013;59(10):1461-1469. doi:10.1373/clinchem.2013.207472; Cowan T, Pasquali M. Laboratory investigations of inborn errors of metabolism. In: Sarafoglou K, Hoffman GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. McGraw-Hill; 2017:1139-1158)

Reject Due To

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

Method Name

Immunoassay

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602)

3. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Neurology Specialty Testing Client Test Request (T732)

-Biochemical Genetics Test Request (T798)

Genetics Test Information

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 also be utilized for ongoing medical monitoring.