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Test ID FFRWB Friedreich Ataxia, Frataxin, Quantitative, Blood

Useful For

Diagnosing individuals with Friedreich ataxia in whole blood specimens

 

Monitoring frataxin levels in patients with Friedreich ataxia

 

This test is not useful for carrier detection.

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 monitoring known patients.

Highlights

Frataxin protein analysis is a cost-effective and quick method for establishing a diagnosis of Friedreich Ataxia (FA) and will detect rare variants otherwise missed by common molecular-based trinucleotide repeat analysis.

This assay is available for the diagnosis of individuals with FA and monitoring frataxin levels in known patients, regardless of the individual's age.

Method Name

Immunoassay

Reporting Name

Frataxin, Quant, WB

Specimen Type

Whole blood


Necessary Information


Provide a reason for testing with each specimen.



Specimen Required


Collection Container/Tube: 

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium or lithium heparin)

Submission Container/Tube: Plastic vial

Specimen Volume: 2 mL


Specimen Minimum Volume

1.25 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Frozen (preferred) 70 days
  Ambient  70 days
  Refrigerated  70 days

Reference Values

Pediatric (<18 years) normal frataxin: ≥19 ng/mL

Adults (≥18 years) normal frataxin: ≥21 ng/mL

Day(s) Performed

Twice per month, Thursday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83520

LOINC Code Information

Test ID Test Order Name Order LOINC Value
FFRWB Frataxin, Quant, WB 80979-8

 

Result ID Test Result Name Result LOINC Value
32253 Reason for Referral 42349-1
32254 Method 85069-3
32255 Frataxin 80979-8
32256 Interpretation 59462-2

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 US Food and Drug Administration.

Report Available

14 to 30 days

NY State Approved

Yes

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 1 of the following forms with the specimen:

-Neurology Specialty Testing Client Test Request (T732)

-Biochemical Genetics Test Request (T798)