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HelpTest ID FFRWB Friedreich Ataxia, Frataxin, Quantitative, Blood
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 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 Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole blood | Frozen (preferred) | 70 days |
| Ambient | 70 days | |
| Refrigerated | 70 days |
Special Instructions
Reference Values
Pediatric (<18 years) normal frataxin: ≥19 ng/mL
Adults (≥18 years) normal frataxin: ≥21 ng/mL
Day(s) Performed
Twice per month, Wednesday
CPT Code Information
83520
Report Available
2 to 14 daysReject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
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: