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

Reporting Name

Frataxin, Quant, BS

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Diagnosing individuals with Friedreich ataxia in blood spot specimens

 

Monitoring frataxin levels in patients with Friedreich ataxia

 

This test is not useful for carrier detection.

Method Name

Immunoassay


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 and 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 Dried Blood Spot Samples.

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

Specimen Stability Information: Ambient (preferred)/Refrigerated

Additional Information:

1. Due to lower concentrations of DNA yielded from blood spots, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be needed to complete testing.

2. For collection instructions, see Blood Spot Collection Instructions

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

4. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)


Specimen Type

Whole blood

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
Multiple layers		 Reject

Reference Values

Pediatric (<18 years) normal frataxin: ≥15 ng/mL

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

Interpretation

Normal results (≥15 ng/mL for pediatric and ≥23 ng/mL for adult patients) in properly submitted specimens are not consistent with Friedreich ataxia.

 

For results outside the normal reference range an interpretative comment will be provided.

Day(s) Performed

Twice per month, Thursday

Report Available

14 to 30 days

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
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

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.