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HelpTest Code FFRBS Friedreich Ataxia, Frataxin, Quantitative, Blood Spot
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Reporting Name
Frataxin, Quant, BSSpecimen Type
Whole bloodNecessary Information
Provide a reason for testing with each specimen.
Specimen Required
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Blood spot collection card
Acceptable: PerkinElmer 226 (formerly Ahlstrom 226) Filter Paper and Whatman Protein Saver 903 Paper
Specimen Volume: 2 blood spots
Collection Instructions:
1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.
2. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry
Specimen Stability Information: Ambient (preferred)/Refrigerated
Additional Information:
1. Due to lower concentrations of DNA yielded from blood spots, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be needed to complete testing.
2. For collection instructions, see Blood Spot Collection Instructions
3. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)
4. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)
Reject Due To
| Shows serum rings Multiple layers |
Reject |
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Ambient (preferred) | 30 days | FILTER PAPER |
| Frozen | 30 days | FILTER PAPER | |
| Refrigerated | 30 days | FILTER PAPER |
Specimen Minimum Volume
1 Blood spot
Special Instructions
Day(s) Performed
Twice per month, Thursday
Specimen Retention Time
1 yearReport Available
14 to 30 daysReference Values
Pediatric (<18 years) normal frataxin: ≥15 ng/mL
Adults (≥18 years) normal frataxin: ≥21 ng/mL
Useful For
Diagnosing individuals with Friedreich ataxia in blood spot 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 |
|---|---|---|
| FFRBS | Frataxin, Quant, BS | 80980-6 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 32249 | Reason for Referral | 42349-1 |
| 32250 | Method | 85069-3 |
| 32251 | Frataxin | 80980-6 |
| 32252 | 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 a Biochemical Genetics Test Request (T798) 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.