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

Reporting Name

Frataxin, Quant, BS

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.

Specimen Type

Whole blood

Necessary Information

Provide a reason for referral with each specimen.

Specimen Required

Supplies: Card-Blood Spot Collection (Filter Paper) (T493)


Preferred: Blood spot collection card

Acceptable: 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 >1 year of age is fingerstick.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 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 in Special Instructions.

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.

Specimen Minimum Volume

Blood spot: 1

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) and Time(s) Performed

Alternating Fridays

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information


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 49549-9
32251 Frataxin 80980-6
32252 Interpretation 59462-2

Clinical Information

Friedreich ataxia (FA) is an autosomal recessive disease affecting approximately 1:50,000 Caucasians. The disease is clinically characterized by progressive spasticity, ataxia, dysarthria, absent lower limb reflexes, sensory loss, and scoliosis. Cardiac involvement occurs with the development of myocardial fibrosis due to mitochondrial proliferation and loss of contractile proteins. It tends to be correlated with the clinical neurologic age of onset and the GAA triplet repeat length, but not the duration of disease or the severity of neurologic symptoms. Although most individuals begin experiencing initial symptoms between 10 and 15 years of age, atypical late-onset forms with initial symptoms presenting after age 25 do occur.


FA is caused by mutations in the FXN gene encoding a mitochondrial protein, frataxin. Mutations in this gene lead to a reduced expression of frataxin, which causes the clinical manifestations of the disease. Approximately 98% of individuals with FA have a homozygous expansion of the GAA trinucleotide repeat in intron 1 of FXN. The remaining 2% of FA patients have the trinucleotide expansion on 1 allele and a point mutation or deletion on the second allele. Normal alleles contain between 5 to 33 GAA repeats. Disease-causing alleles typically range from 66 to 1700 repeats, though the majority of individuals with FA have repeats ranging from 600 to 1200.


Historically, FA has been diagnosed by use of a DNA-based molecular test to detect the presence of the GAA expansion. Unfortunately, testing for the triplet repeat expansion will miss those patients with point mutations or deletions. Moreover, a molecular-based analysis is not able to effectively monitor treatment. In contrast, a protein-based assay measuring concentration of frataxin is suitable for both diagnosis as well as treatment monitoring in individuals with FA.


Normal results (≥15 ng/mL for pediatric and ≥21 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. Deutsch EC, Oglesbee D, Greeley NR, Lynch DR: Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia. J Neurol Neurosurg Psychiatry 2014 Sep;85(9):994-1002

2. Babady NE, Carelle N, Wells RD, et al: Advancements in the pathophysiology of Friedreich ataxia and new prospects for treatments. Mol Genet Metab 2007;92:23-35

3. Boehm T, Scheiber-Mojdehkar B, Kluge B, et al: Variations of frataxin protein levels in normal individuals. Neurol Sci 2011 Apr;32(2):327-30 doi: 10.1007/s10072-010-0326-1

4. Hanson E, Sheldon M, Pacheco B, et al: Heart disease in Friedreich's ataxia. World J Cardiol 2019;11(1):1-12

Analytic Time

14 days

Method Name

Luminex Immunoassay


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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) in Special Instructions

3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.