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HelpTest Code FFRWB Friedreich Ataxia, Frataxin, Quantitative, Blood
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Reporting Name
Frataxin, Quant, WBSpecimen 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.
Reject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Frozen (preferred) | 70 days | |
| Ambient | 70 days | ||
| Refrigerated | 70 days |
Specimen Minimum Volume
1.25 mL
Special Instructions
Day(s) Performed
Twice per month, Thursday
Specimen Retention Time
1 monthReport Available
2 to 14 daysReference Values
Pediatric (<18 years) normal frataxin: ≥19 ng/mL
Adults (≥18 years) normal frataxin: ≥21 ng/mL
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.
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 |
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:
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.