|Values are valid only on day of printing.|
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
In addition, the following organic acid disorders can be confirmed by this assay:
-2-Methylbutyryl-CoA dehydrogenase (SBCAD) deficiency
-Isobutyryl-CoA dehydrogenase (IBD) deficiency
Work is in progress to evaluate the applicability of this assay to the remaining disorders of fatty acid transport and mitochondrial oxidation.
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). Please provide clinical information.
|Test ID||Reporting Name||Available Separately||Always Performed|
|CRYOB||Cryopreserve for Biochem Studies||No||Yes|
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 Acylcarnitine Elevations (also applies to any plasma C5 acylcarnitine elevation) in Special Instructions.
FAO: Fibroblasts Incubated with Enriched Medium Followed by Tandem Mass Spectrometry (MS/MS) for Acylcarnitines
FIBR: Cultivated from Biopsy as Monolayer
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage