Acylcarnitine Profile 〈Plasma〉

Pseudonyms

Carnitine; Carnitine Level; Plasma Carnitine; Acylcarnitines; MCAD deficiency; Medium-chain acyl-coA dehydrogenase deficiency; carnitine uptake defect; CUD; Methylmalonic acidaemia; propionic acidaemia; Cobalamin disorders; Multiple acyl-CoA dehydrogenation deficiency; MAD deficiency; Short-chain acyl-CoA dehydrogenase deficiency; SCAD deficiency; beta-ketothiolase deficiency; β-ketothiolase deficiency; multiple carboxylase deficiency; holocarboxylase synthase deficiency; Isovaleric acidaemia; isovaleryl-coa dehydrogenase deficiency; short-chain hydroxyacyl-CoA dehydrogenase deficiency; SCHAD deficiency; Malonyl-CoA decarboxylase deficiency; Biotinidase deficiency; 3-methylcrotonyl-CoA carboxylase deficiency; maternal 3-MCC deficiency; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency; HMG-CoA lyase deficiency; Glutaric acidaemia I; glutaryl-CoA dehydrogenase; 2,4 Dienoyl-CoA reductase (2,4 Di) deficiency; Very long-chain acyl-CoA dehydrogenase, VLCAD; long-chain 3-hydroxyacyl-CoA dehydrogenase, LCHAD; Carnitine palmitoyltransferase I deficiency; CPT I deficiency; Carnitine palmitoyltransferase II deficiency; CPT II deficiency; carnitine acylcarnitine translocase deficiency.

Collection Requirements

Tube Colour

Dark Green on ICE

Test image(s)

Requires own tube?

No

Department

Biochemistry

Reference Interval

Availability

Up to four weekdays

Reference Laboratory

Fee

$200.00 + GST There is no cost for NSW residents where an inborn error of metabolism is suspected or confirmed. All other patients will be billed and where the bill is to be paid by the patient we require a signed Patient Consent for Non-Rebateable Test Form. The NSW Biochemical Genetics Service charges referring laboratories for investigations on patients who do not have a suspected inherited disorder. Such cases might include plasma carnitine/acylcarnitines for patients on TPN, ketogenic diet or medication such as valproate.

Notes

Test code: ACARNP