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HelpTest Code FFRWB Friedreich Ataxia, Frataxin, Quantitative, Blood
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
Whole bloodNecessary 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 | Special Container |
|---|---|---|---|
| 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
Report Available
2 to 14 daysSpecimen Retention Time
1 monthReject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
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.