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HelpTest Code FAO Fatty Acid Oxidation Probe Assay, Fibroblast Culture
Reporting Name
Fatty Acid Ox Probe Assay, FibroUseful 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.
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 | Special Container |
|---|---|---|---|
| Tissue | Varies | ||
Special Instructions
Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
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
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 |
Interpretation
Abnormal results will include a description of the abnormal profile in comparison to normal and abnormal controls. In addition, the concentration of the acylcarnitine species that abnormally accumulated in the cell medium are provided and compared to the continuously updated reference range based on analysis of normal controls.
Interpretations of abnormal acylcarnitine profiles also include information about the results' significance, a correlation to available clinical information, possible differential diagnoses, recommendations for additional biochemical testing and confirmatory studies if indicated, name and phone number of contacts who may provide these studies, and a phone number to reach one of the laboratory directors in case the referring provider has additional questions.
Clinical Reference
1. Ensenauer R, Vockley J, Willard JM, et al. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet. 2004;75(6):1136-1142. doi:10.1086/426318
2. Rinaldo P, Matern D, Bennet MJ. Fatty acid oxidation disorders. Ann Rev Physiol. 2002;64:477-502
3. Shen JJ, Matern D, Millington DS, et al: Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. J Inherit Metab Dis. 2000;23:27-44. doi:10.1023/a:1005694712583
4. Matern D, Huey JC, Gregersen N, et al. In vitro diagnosis of short-chain acyl-CoA dehydrogenase (SCAD) deficiency. J Inherit Metab Dis. 2001;24(Suppl.1):66
5. Merritt JL, Norris M, Kanungo S. Fatty acid oxidation disorders. Ann. Transl. Med. 2018;6(24):473. doi:10.21037/atm.2018.10.57
Report Available
15 to 71 days depending on rapidity of growthMethod Name
Fibroblasts Incubated with Enriched Medium followed by Tandem Mass Spectrometry (MS/MS)
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.