Friedreich Ataxia, Frataxin, Quantitative, Blood
Use
This test is used for diagnosing individuals with Friedreich ataxia in whole blood specimens and for monitoring frataxin levels in patients with Friedreich ataxia. Friedreich ataxia (FA) commonly presents between 10 to 15 years of age with progressive neurological changes such as spasticity and ataxia. Decreased frataxin protein levels are diagnostic of FA and useful for ongoing medical monitoring.
Special Instructions
Informed consent is required for New York clients. Documentation of consent must be on file as indicated in the request or electronic order form. Preferred specimen collection is in a lavender top (EDTA) tube, with whole blood sent in the original container and not aliquoted.
Limitations
This test is not effective for carrier detection of Friedreich ataxia. Test performance is consistent with CLIA requirements but has not been cleared or approved by the US Food and Drug Administration. Testing for trinucleotide repeat expansion may miss patients with point alterations or deletions, though protein-based assessment via this method is suitable for both diagnosis and ongoing treatment monitoring.
New York Approved
Methodology
Immunoassay (Multiplex Protein Panel)
Biomarkers
LOINC Codes
- 80979-8
- 80979-8
- 42349-1
- 85069-3
- 59462-2
Result Turnaround Time
2-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
1.25 mL
Container
Lavender top (EDTA)
Collection Instructions
Send whole blood specimen in original tube. Do not aliquot.
Causes for Rejection
Gross hemolysis, lipemia, and icterus are acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 70 days |
| Refrigerated | 70 days |
| Frozen | 70 days |