FAO - Overview: Fatty Acid Oxidation Probe Assay, Fibroblast Culture

Test Catalog

Test ID: FAO    
Fatty Acid Oxidation Probe Assay, Fibroblast Culture

Useful For Suggests clinical disorders or settings where the test may be helpful

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.

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

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.

Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesYes
CRYOBCryopreserve for Biochem StudiesNoYes

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

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.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

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

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Fatty Acid Ox Probe Assay, Fibro

Aliases Lists additional common names for a test, as an aid in searching

Trifunctional protein (TFP) deficiency
CACT (Carnitine-Acylcarnitine Translocase) Deficiency
Carnitine Palmitoyl Transferase Deficiency Type II (CPT-II)
Carnitine-Acylcarnitine Translocase (CACT) Deficiency
CPT II (Carnitine Palmitoyl Transferase Deficiency Type II)
IBDH (Isobutyryl-CoA Dehydrogenase) Deficiency
Isobutyryl-CoA Dehydrogenase (IBDH) Deficiency
Isovaleric Acidemia (IVA)
Isovaleryl-CoA Dehydrogenase (IVD) Deficiency
IVA (Isovaleric Acidemia)
IVD (Isovaleryl-CoA Dehydrogenase) Deficiency
LCHAD (Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase) Deficiency
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency
MADD (Multiple Acyl-CoA Dehydrogenase Deficiency)
MCAD (Medium-Chain Acyl-CoA Dehydrogenase) Deficiency
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
SBCAD (Short-Branched Chain Acyl-CoA Dehydrogenase) Deficiency
SCAD (Short-Chain Acyl-CoA Dehydrogenase) Deficiency
Short-Branched Chain Acyl-CoA Dehydrogenase (SBCAD) Deficiency
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
TFP (Trifunctional Protein) Deficiency
Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
VLCAD (Very Long-Chain Acyl-CoA Dehydrogenase) Deficiency