Fatty Acid Oxidation Probe Assay, Fibroblast Culture
Use
The Fatty Acid Oxidation Probe Assay is used for the in vitro confirmation of biochemical diagnoses related to fatty acid oxidation disorders. These disorders include 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, and carnitine-acylcarnitine translocase deficiency. Additionally, this test confirms organic acid disorders such as 2-methylbutyryl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency. It allows for the diagnosis of these disorders under controlled laboratory conditions to minimize the influence of dietary factors or patient’s clinical status on the results.
Special Instructions
The test is not useful for prenatal testing and is not informative if the deficient enzyme is not expressed in skin fibroblasts. When ordered, fibroblast culture testing will always be performed at an additional charge, and if viable cells are not obtained, the client will be notified. Informed consent is required for New York clients, and additional tests such as fibroblast culture for genetic testing (CULFB) are always included with this test.
Limitations
The assay may not be informative if the enzyme responsible for the deficiency is not naturally expressed in the fibroblast cells. It has limitations in differentiating disorders based solely on acylcarnitine profiles, potentially requiring supplementary biochemical or molecular genetic tests. Conditions such as ETF deficiency and ETF-dehydrogenase deficiency may not always be detected with this method. Specimens in formalin or other fixative preservatives will be rejected.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 74533-1
- 59462-2
- 18771-6
Result Turnaround Time
15-71 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (Fresh)
Volume
1 Full T-75 flask or 2 full T-25 flasks
Minimum Volume
Not provided
Container
T-75 or T-25 flask
Storage Instructions
Ambient (preferred)/Refrigerated
Causes for Rejection
Specimen in formalin or fixative preservative
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient |