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Test Code FFRBS Friedreich Ataxia, Frataxin, Quantitative, Blood Spot

Reporting Name

Frataxin, Quant, BS

Useful For

Diagnosing individuals with Friedreich ataxia (FA) in blood spot specimens

 

Monitoring frataxin levels in patients with FA

 

This test is not useful for carrier detection.

Method Name

Immunoassay

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole blood


Necessary 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 or 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 a Dried Blood Spot Sample.

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.

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)

3. 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

Reject Due To

Shows serum rings Reject
Multiple layers Reject

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

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

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.

Report Available

14 to 30 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 a Biochemical Genetics Test Request (T798) with the specimen.