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Unit Code 81927:
Fatty Acid Oxidation Probe Assay, Fibroblast Culture

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Useful For

In vitro confirmation of biochemical diagnoses of the following

FAO 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

-Multiple acyl-CoA dehydrogenase deficiency (glutaric acidemia

 type II)

 

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.

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 lysosomal enzyme assays on a patient utilizing

fibroblast culture, only 1 culture is required regardless of the number

of enzyme assays ordered. If viable cells are not obtained within

10 days, client will be notified.

Testing Guides and Forms

• Lysosomal Storage Disorders 

Method Name

81927: Fibroblasts Incubated with Enriched Medium Followed 
by Tandem Mass Spectrometry (MS-MS) for Acylcarnitines
8482: Cultivated from Biopsy as Monolayer
88832: Fibroblast Subculture Followed by Cryopreservation 
and Storage

Reporting Name

Fatty Acid Ox Probe Assay, Fibro

Ordering Mnemonic

FAO

Aliases

2-Methylbutyrylglycinuria

CACT

Carnitine palmitoyl transferase deficiency type II (CPT-II)

Carnitine-acylcarnitine translocase (CACT) deficiency

CPT II

GA II

GA2

Glutaric acidemia type II

Isobutyryl-CoA dehydrogenase deficiency

Isovaleric acidemia

Isovaleryl-CoA dehydrogenase deficiency

LCHAD

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

MADD

MCAD

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Multiple acyl-CoA dehydrogenase deficiency (glutaric acidemia type II)

SBCAD

SCAD

Short-branched chain acyl-CoA dehydrogenase deficiency

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency

TFP

Trifunctional protein deficiency (TFP)

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

VLCAD

Key