Home
HelpTest Code FFRBS Friedreich Ataxia, Frataxin, Quantitative, Blood Spot
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen 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 or 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 a Dried Blood Spot Sample.
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.
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)
Specimen Minimum Volume
1 Blood spot
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 |
Reference Values
Pediatric (<18 years) normal frataxin: ≥15 ng/mL
Adults (≥18 years) normal frataxin: ≥21 ng/mL
Day(s) Performed
Twice per month, Thursday
CPT Code Information
83520
Report Available
14 to 30 daysSpecimen Retention Time
1 yearReject Due To
| Shows serum rings | Reject |
| Multiple layers | Reject |
Genetics Test Information
Friedreich ataxia (FA) presents most commonly between 10 to 15 years 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.