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


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 Lists tests that are always performed, at an additional charge, with the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesYes
CRYOBCryopreserve for Biochem StudiesNoYes

Testing Algorithm Delineates situations 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 one 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.

Special Instructions Library of PDFs including pertinent information and forms related to the 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)

CRYOB: Fibroblast Subculture followed by Cryopreservation and Storage

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


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

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
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