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Test Code FAO Fatty Acid Oxidation Probe Assay, Fibroblast Culture

Reporting Name

Fatty Acid Ox Probe Assay, Fibro

Useful For

In vitro confirmation of biochemical diagnoses of the following fatty acid oxidation disorders:

-Short-chain acyl-CoA dehydrogenase deficiency

-Medium-chain acyl-CoA dehydrogenase deficiency

-Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

-Trifunctional protein deficiency

-Very long-chain acyl-CoA dehydrogenase deficiency

-Carnitine palmitoyl transferase deficiency type II

-Carnitine-acylcarnitine translocase deficiency

 

Confirmation of the following organic acid disorders:

-2-Methylbutyryl-CoA dehydrogenase deficiency

-Isobutyryl-CoA dehydrogenase deficiency

 

This test is not useful for prenatal testing.

 

This assay is not informative if the deficient enzyme is not physiologically expressed in skin fibroblasts.

Additional Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes Yes

Testing Algorithm

When this test is ordered, fibroblast culture testing will always be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Method Name

Fibroblasts Incubated with Enriched Medium followed by Tandem Mass Spectrometry (MS/MS)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Tissue


Ordering Guidance


This test is recommended only after appropriate analyte testing, including acylcarnitines, organic acids, acylglycines, and/or fatty acids has been performed.

 

For more information see:

-ACRN / Acylcarnitines, Quantitative, Plasma

-OAU / Organic Acids Screen, Random, Urine

-AGU20 / Acylglycines, Quantitative, Random, Urine

-FAPCP / Fatty Acid Profile, Comprehensive (C8-C26), Serum



Necessary Information


Provide clinical information



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask

Specimen Volume: 1 Full T-75 flask or 2 full T-25 flasks

Specimen Stability Information: Ambient (preferred)/Refrigerated

 

Specimen Type: Skin biopsy

Supplies: Fibroblast Biopsy Transport Media (T115)

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin).

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient


Specimen Stability Information

Specimen Type Temperature Time Special Container
Tissue Varies

Reject Due To

Specimen in formalin or fixative preservative Reject

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

CPT Code Information

82017

LOINC Code Information

Test ID Test Order Name Order LOINC Value
FAO Fatty Acid Ox Probe Assay, Fibro 74533-1

 

Result ID Test Result Name Result LOINC Value
23487 Interpretation 59462-2
23489 Reviewed By 18771-6

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

15 to 71 days depending on rapidity of growth

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