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Test Code FFRBS Friedreich Ataxia, Frataxin, Quantitative, Blood Spot

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole blood


Necessary 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)


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 days

Specimen Retention Time

1 year

Reject Due To

Shows serum rings
Multiple layers
Reject

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.