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HelpTest Code Fib Fat Ox 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
TAT: 17 - 73 days
* Depends on rapidity of growth.
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 |
Method Description
Skin fibroblasts are incubated with cell medium enriched with palmitic acid (C16:0 fatty acid), L-carnitine, and isotopically labeled L-valine ([13]C-Val) and L-isoleucine ([13]C-Ile). Cell lines deficient of one of the enzymes involved in fatty acid oxidation and branched chain amino acid metabolism fail to metabolize acyl-CoA species, which accumulate in the cell medium as acylcarnitines. The medium is separated from the cells following the incubation. The cell pellet is used for protein determination and the medium will be spotted and dried on filter paper. An acylcarnitine analysis is performed by tandem mass spectrometry using a 1/4" filter paper punch, following the addition of isotopically labeled acylcarnitines as internal standards, extraction and derivatization to methyl esters. The assay is performed in triplicate.(Matern D. Acylcarnitines, including in vitro loading tests. In: Blau N, Duran M, Gibson KM, eds. Laboratory Guide to the Methods in Biochemical Genetics. Springer-Verlag; 2008; Cowan T, Pasquali M. Laboratory investigations of inborn errors of metabolism. In: Sarafoglou K, Hoffman GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. McGraw-Hill; 2017:1139-1158)
Report Available
15 to 71 days depending on rapidity of growthReject Due To
| Specimen in formalin or fixative preservative | Reject |
Method 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.