Friedreich Ataxia, Frataxin, Quantitative, Blood Spot
Use
This test is used for diagnosing individuals with Friedreich ataxia (FA) using blood spot specimens and for monitoring frataxin protein levels in patients with FA. Frataxin protein analysis is a cost-effective method that aids in establishing a diagnosis of FA and can detect rare variants that might be missed by common molecular-based trinucleotide repeat analysis. The immunoassay is suitable for both diagnosis and treatment monitoring at any age.
Special Instructions
For New York clients, informed consent is required and must be documented on the request form or electronic order. If ordering manually, complete and send a Biochemical Genetics Test Request form with the specimen.
Limitations
Due to lower concentrations of DNA yielded from blood spots, some test aspects may not perform as well as DNA extracted from a whole blood sample. Specific gene regions unable to be interrogated will be noted in the report, and additional specimen may be needed. This test is not useful for carrier detection.
New York Approved
Methodology
Immunoassay
Biomarkers
LOINC Codes
- 80980-6
- 42349-1
- 85069-3
- 80980-6
- 59462-2
Result Turnaround Time
14-30 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 blood spots
Minimum Volume
1 Blood spot
Container
Blood spot collection card
Collection Instructions
Use a blood spot collection card; acceptable papers include PerkinElmer 226 or Whatman Protein Saver 903 Paper. Allow blood to dry on the filter paper at ambient temperature horizontally for at least 3 hours. Avoid heat, direct sunlight, and stacking wet specimens.
Storage Instructions
Preferred ambient; refrigerated, frozen acceptable.
Causes for Rejection
Serum rings, Multiple layers
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 30 days |
| Refrigerated | 30 days |
| Frozen | 30 days |