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HelpTest ID: FFRBS Friedreich Ataxia, Frataxin, Quantitative, Blood Spot
Reporting Name
Frataxin, Quant, BSUseful 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 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)
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
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.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 |
Clinical Information
Friedreich ataxia (FA) is an autosomal recessive disease affecting approximately 1:50,000 individuals in the white population. 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 variants in the FXN gene encoding a mitochondrial protein, frataxin. Variants in this gene lead to a reduced expression of frataxin, which causes the clinical manifestations of the disease. Approximately 96% of individuals with FA have a homozygous expansion of the GAA trinucleotide repeat in intron 1 of FXN. The remaining 4% of FA patients have the trinucleotide expansion on 1 allele and a point alteration 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, although 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 with point alterations or deletions. Moreover, a molecular-based analysis is not able to effectively monitor treatment. In contrast, this protein-based assay measuring concentration of frataxin is suitable for both diagnosis as well as treatment monitoring in individuals with FA.
For patients with a low frataxin level, molecular repeat expansion analysis of the FXN gene (AFXN / Friedreich Ataxia, Repeat Expansion Analysis, Varies) allows for detection of disease-causing expansion alleles.
Interpretation
Normal results (≥15 ng/mL for pediatric and ≥23 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. Oglesbee D, Kroll C, Gakh O, et al. High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood. Clin Chem. 2013;59(10):1461-1469. doi:10.1373/clinchem.2013.207472
2. Deutsch EC, Oglesbee D, Greeley NR, Lynch DR. Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia. J Neurol Neurosurg Psychiatry. 2014;85(9):994-1002
3. Delatycki MB, Bidichandani SI. Friedreich ataxia- pathogenesis and implications for therapies. Neurobiol Dis. 2019;132:104606. doi:10.1016/j.nbd.2019.104606
4. Boehm T, Scheiber-Mojdehkar B, Kluge B, Goldenberg H, Laccone F, Sturm B. Variations of frataxin protein levels in normal individuals. Neurol Sci. 2011;32(2):327-330. doi:10.1007/s10072-010-0326-1
5. Hanson E, Sheldon M, Pacheco B, Alkubeysi M, Raizada V. Heart disease in Friedreich's ataxia. World J Cardiol. 2019;11(1):1-12. doi:10.4330/wjc.v11.i1.1
Report Available
14 to 30 daysMethod Name
Immunoassay
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.
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