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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 (SCAD) deficiency
-Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
-Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
-Trifunctional protein deficiency
-Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
-Carnitine palmitoyl transferase deficiency type II (CPT-II)
-Carnitine-acylcarnitine translocase (CACT) deficiency
Confirmation of the following organic acid disorders:
-2-Methylbutyryl-CoA dehydrogenase (SBCAD) deficiency
-Isobutyryl-CoA dehydrogenase (IBD) deficiency
This test is not useful for prenatal testing.
This assay is not informative if the deficient enzyme is physiologically not expressed in skin fibroblasts.
Additional Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FIBR | Fibroblast Culture | Yes | Yes |
| CRYOB | Cryopreserve for Biochem Studies | No | Yes |
Testing Algorithm
When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple assays on a patient utilizing fibroblast culture, only 1 culture is required regardless of the number of assays ordered. If viable cells are not obtained within 30 days, client will be notified.
See Newborn Screening Follow-up for Isolated C5 Acylcarnitines Elevations (also applies to any plasma or serum C5 acylcarnitine elevations) in Special Instructions.
Method Name
FAO: Fibroblasts Incubated with Enriched Medium followed by Tandem Mass Spectrometry (MS/MS)
CRYOB: Fibroblast Subculture followed by Cryopreservation and Storage
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
TissueAdvisory Information
This test is recommended only after appropriate analyte testing, including acylcarnitines, organic acids, acylglycines, and/or fatty acids (ACRN / Acylcarnitines, Quantitative, Plasma; OAU / Organic Acids Screen, Urine; ACYLG / Acylglycines, Quantitative, Urine; FAPCP / Fatty Acid Profile, Comprehensive [C8-C26], Serum), has been performed.
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 24 hours
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 |
Special Instructions
Reference Values
An interpretive report will be provided.
Day(s) and Time(s) Performed
Varies
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
82017-Acylcarnitines; quantitative, each specimen
88233-Fibroblast culture
88240-Cryopreservation for biochemical studies
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| FAO | Fatty Acid Ox Probe Assay, Fibro | 35574-3 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 23487 | Interpretation | 59462-2 |
| 23489 | Reviewed By | 18771-6 |
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 in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602) in Special Instructions.
3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.