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HelpTest Code FFRWB Friedreich Ataxia, Frataxin, Quantitative, Blood
Reporting Name
Frataxin, Quant, WBUseful 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 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 |
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, Thursday
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
83520
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| FFRWB | Frataxin, Quant, WB | 80979-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 32253 | Reason for Referral | 42349-1 |
| 32254 | Method | 85069-3 |
| 32255 | Frataxin | 80979-8 |
| 32256 | Interpretation | 59462-2 |
Interpretation
Normal results (≥19 ng/mL for pediatric and ≥23 ng/mL for adult patients) in properly submitted specimens are not consistent with Friedreich ataxia.
For results outside the normal reference range an interpretative comment will be provided.
Clinical Reference
1. 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
2. Deutsch EC, Oglesbee D, Greeley NR, Lynch DR. Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia. J Neurol Neurosurg Psychiatry. 2014;85(9):994-1002
3. Delatycki MB, Bidichandani SI. Friedreich ataxia- pathogenesis and implications for therapies. Neurobiol Dis. 2019;132:104606. doi:10.1016/j.nbd.2019.104606
4. Boehm T, Scheiber-Mojdehkar B, Kluge B, Goldenberg H, Laccone F, Sturm B. Variations of frataxin protein levels in normal individuals. Neurol Sci. 2011;32(2):327-330. doi:10.1007/s10072-010-0326-1
5. Hanson E, Sheldon M, Pacheco B, Alkubeysi M, Raizada V. Heart disease in Friedreich's ataxia. World J Cardiol. 2019;11(1):1-12. doi:10.4330/wjc.v11.i1.1
Report Available
2 to 14 daysMethod 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: