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Unit Code 82413:
Acylcarnitines, Quantitative, Plasma

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

Diagnosis of fatty acid beta-oxidation disorders and several

organic acidurias

 

In general, more than 20 inborn errors of metabolism can be identified

using this method.  For most of the disorders involving fatty acid beta-

oxidation, this is the most informative screening test. Quantitative

acylcarnitine analysis can also be used to evaluate the treatment

during follow-up of patients with these disorders.

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

• Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma C4 acylcarnitine elevations) 
• Newborn Screening Follow-up for Elevations of C8, C6, and C10 Acylcarnitine (also applies to any plasma C8, C6, and C10 acylcarnitine elevations) 
• Newborn Screening Follow-up for Isolated C5 Acylcarnitines Elevations (also applies to any plasma C5 acylcarnitine elevation) 

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

Electrospray Tandem Mass Spectrometry (MS/MS)

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

Acylcarnitines, Quantitative, P

Ordering Mnemonic An alternate Mayo code (to the Unit Code) for a test

ACCARN

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

2-Methylbutyryl-CoA dehydrogenase deficiency

3-Hydroxy-3-methylglutaryl-CoA carboxylase deficiency

3-Methylcrotonyl carboxylase deficiency

B-ketothiolase deficiency

Biotinidase (multiple carboxylase) deficiency

Carnitine palmitoyl transferase deficiency type ll (CPT-ll)

CPT-II

Electron-transfer flavoprotein (ETF) deficiency

Electron-transfer flavoprotein (ETF) dehydrogenase deficiency

ETF

ETF dehydrogenase deficiency

GA2

GAII

Glutaric acidemia type II

Glutaryl-CoA dehydrogenase deficiency (glutaric acidemia type I)

Isobutyryl-CoA dehdrogenase deficiency

Isovaleric Acidemia

LCHAD

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

MADD

Malonic aciduria

MCAD

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Methylmalonic Acidemia

MMA

Multiple acyl-CoA dehydrogenase deficiency (MADD)

Propionic Acidemia

SCAD

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency

Short/Medium-chain 3-hydroxyacyl-CoA dehydrogenase (S/MCHAD) deficiency

Soft-ACRN

TFP

Trifunctional protein deficiency (TFP)

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

VLCAD