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Test Code FFRWB Friedreich Ataxia, Frataxin, Quantitative, Blood

Reporting Name

Frataxin, Quant, WB

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.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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)

Specimen Volume: 2 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.


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

Reject Due To

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

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

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
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

Report Available

2 to 14 days

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)