Order Code ACRN Acylcarnitines, Quantitative, Plasma
Reporting Name
Acylcarnitines, Quantitative, PUseful For
Diagnosis of fatty acid oxidation disorders and several organic acidurias using plasma specimens
Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias
Performing Laboratory
Mayo Clinic Laboratories in RochesterSpecimen Type
PlasmaNecessary Information
1. Patient's age is required.
2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
Specimen Required
Patient Preparation: Collect specimen just prior to a scheduled meal or feeding.
Collection Container/Tube:
Preferred: Green top (sodium heparin)
Acceptable: Lavender top (EDTA) or green top (lithium heparin)
Submission Container/Tube: Plastic vial
Specimen Volume: 0.1 mL
Collection Instructions: Centrifuge and aliquot plasma into plastic vial.
Specimen Minimum Volume
0.04 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Plasma | Frozen (preferred) | 92 days | |
Refrigerated | 64 days | ||
Ambient | 8 days |
Day(s) Performed
Monday through Friday
CPT Code Information
82017
Method Description
Six internal standards of known concentration (d3-acetylcarnitine, d3-propionylcarnitine, d7-butyrylcarnitine, d3-octanoylcarnitine, d3-dodecanoylcarnitine, and d3-palmitoyl-carnitine) and acetonitrile for deproteinization are added to plasma. The supernate is dried and then treated with n-butanolic HCl yielding the acylcarnitines, which are analyzed as their n-butylesters by electrospray ionization tandem mass spectrometry. The concentrations of the analytes are established by computerized comparison of these analytes' ion intensities to those of the closest internal standard.(Van Hove JL, Kahler SG, Feezor MD, et al. Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacylcoenzyme A dehydrogenase deficiency. J Inherit Metab Dis. 2000;23:571-582; Miller MJ, Cusmano-Ozog K, Oglesbee D, Young S; ACMG Laboratory Quality Assurance Committee. Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics [ACMG]. Genet Med. 2021;23[2]:249-258)
Reject Due To
Gross hemolysis | OK |
Gross lipemia | OK |
Gross icterus | OK |
Method Name
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
Reference Values
≤7 days (nmol/mL) |
8 days-7 years (nmol/mL) |
≥8 years (nmol/mL) |
|
Acetylcarnitine, C2 |
2.14-15.89 |
2.00-27.57 |
2.00-17.83 |
Acrylylcarnitine, C3:1 |
<0.04 |
<0.05 |
<0.07 |
Propionylcarnitine, C3 |
<0.55 |
<1.78 |
<0.88 |
Formiminoglutamate, FIGLU |
<0.43 |
<0.08 |
<0.14 |
Iso-/Butyrylcarnitine, C4 |
<0.46 |
<1.06 |
<0.83 |
Tiglylcarnitine, C5:1 |
<0.05 |
<0.09 |
<0.11 |
Isovaleryl-/2-Methylbutyrylcarn C5 |
<0.38 |
<0.63 |
<0.51 |
3-OH-iso-/butyrylcarnitine, C4-OH |
<0.13 |
<0.51 |
<0.18 |
Hexenoylcarnitine, C6:1 |
<0.12 |
<0.10 |
<0.15 |
Hexanoylcarnitine, C6 |
<0.14 |
<0.23 |
<0.17 |
3-OH-isovalerylcarnitine, C5-OH |
<0.08 |
<0.12 |
<0.10 |
Benzoylcarnitine |
<0.13 |
<0.07 |
<0.10 |
Heptanoylcarnitine, C7 |
<0.05 |
<0.05 |
<0.06 |
3-OH-hexanoylcarnitine, C6-OH |
<0.08 |
<0.19 |
<0.09 |
Phenylacetylcarnitine |
<0.15 |
<0.22 |
<0.29 |
Salicylcarnitine |
<0.08 |
<0.09 |
<0.09 |
Octenoylcarnitine, C8:1 |
<0.48 |
<0.91 |
<0.88 |
Octanoylcarnitine, C8 |
<0.19 |
<0.45 |
<0.78 |
Malonylcarnitine, C3-DC |
<0.09 |
<0.14 |
<0.26 |
Decadienoylcarnitine, C10:2 |
<0.11 |
<0.12 |
<0.26 |
Decenoylcarnitine, C10:1 |
<0.25 |
<0.46 |
<0.47 |
Decanoylcarnitine, C10 |
<0.27 |
<0.91 |
<0.88 |
Methylmalonyl-/succinylcarn, C4-DC |
<0.05 |
<0.05 |
<0.05 |
3-OH-decenoylcarnitine, C10:1-OH |
<0.12 |
<0.12 |
<0.13 |
Glutarylcarnitine, C5-DC |
<0.06 |
<0.10 |
<0.11 |
Dodecenoylcarnitine, C12:1 |
<0.19 |
<0.37 |
<0.35 |
Dodecanoylcarnitine, C12 |
<0.18 |
<0.35 |
<0.26 |
3-Methylglutarylcarnitine, C6-DC |
<0.28 |
<0.21 |
<0.43 |
3-OH-dodecenoylcarnitine, C12:1-OH |
<0.11 |
<0.10 |
<0.13 |
3-OH-dodecanoylcarnitine, C12-OH |
<0.06 |
<0.09 |
<0.08 |
Tetradecadienoylcarnitine, C14:2 |
<0.09 |
<0.13 |
<0.18 |
Tetradecenoylcarnitine, C14:1 |
<0.16 |
<0.35 |
<0.24 |
Tetradecanoylcarnitine, C14 |
<0.11 |
<0.15 |
<0.12 |
Octanedioylcarnitine, C8-DC |
<0.25 |
<0.19 |
<0.19 |
3-OH-tetradecenoylcarnitine C14:1OH |
<0.06 |
<0.18 |
<0.13 |
3-OH-tetradecanoylcarnitine, C14-OH |
<0.04 |
<0.05 |
<0.08 |
Hexadecenoylcarnitine, C16:1 |
<0.15 |
<0.21 |
<0.10 |
Hexadecanoylcarnitine, C16 |
<0.36 |
<0.52 |
<0.23 |
3-OH-hexadecenoylcarnitine,C16:1-OH |
<0.78 |
<0.36 |
<0.06 |
3-OH-hexadecanoylcarnitine, C16-OH |
<0.10 |
<0.07 |
<0.06 |
Octadecadienoylcarnitine, C18:2 |
<0.12 |
<0.31 |
<0.24 |
Octadecenoylcarnitine, C18:1 |
<0.25 |
<0.45 |
<0.39 |
Octadecanoylcarnitine, C18 |
<0.10 |
<0.12 |
<0.14 |
Dodecanedioylcarnitine, C12-DC |
<0.10 |
<0.04 |
<0.04 |
3-OH-octadecadienoylcarn, C18:2-OH |
<0.04 |
<0.06 |
<0.06 |
3-OH-octadecenoylcarnitine C18:1-OH |
<0.03 |
<0.04 |
<0.06 |
3-OH-octadecanoylcarnitine, C18-OH |
<0.03 |
<0.05 |
<0.03 |
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.