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HelpTest ID FAO Fatty Acid Oxidation Probe Assay, Fibroblast Culture
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, a fibroblast culture will always be performed at an additional charge. If viable cells are not obtained, the client will be notified.
For more information see Newborn Screen Follow-up for Elevated C14:1 ± Other Long-Chain Acylcarnitine
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
TissueOrdering 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 |
|---|---|---|
| Tissue | Varies | |
Special Instructions
Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
CPT Code Information
82017
Report Available
15 to 71 days depending on rapidity of growthReject Due To
| Specimen in formalin or fixative preservative | Reject |
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.