Test Code ACYLQ 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

Specimen 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
Testing Algorithm
The following algorithms are available:
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Plasma | Frozen (preferred) | 92 days | |
Refrigerated | 64 days | ||
Ambient | 8 days |
Special Instructions
- Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma or serum C4 acylcarnitine elevations)
- Newborn Screening Follow-up for Elevations of C8, C6, and C10 Acylcarnitine Elevations (also applies to any plasma or serum C8, C6, and C10 acylcarnitine elevations)
- Newborn Screening Follow-up for Isolated C5 Acylcarnitines Elevations (also applies to any plasma or serum C5 acylcarnitine elevations)
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 |
Day(s) Performed
Monday through Friday
Test Classification
This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
82017
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
ACRN | Acylcarnitines, Quantitative, P | 43433-2 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
82413 | Acylcarnitines, Quantitative, P | 46252-3 |
10288 | Acetylcarnitine, C2 | 30191-1 |
36497 | Acrylylcarnitine, C3:1 | 43235-1 |
10289 | Propionylcarnitine, C3 | 30551-6 |
36498 | Formiminoglutamate, FIGLU | 79628-4 |
10290 | Iso-/Butyrylcarnitine, C4 | 43243-5 |
36499 | Tiglylcarnitine, C5:1 | 51416-6 |
10293 | Isovaleryl-/2-Methylbutyrylcarn C5 | 30531-8 |
36500 | 3-OH-iso-/butyrylcarnitine, C4-OH | 39000-5 |
36501 | Hexenoylcarnitine, C6:1 | 74540-6 |
10295 | Hexanoylcarnitine, C6 | 30358-6 |
36502 | 3-OH-isovalerylcarnitine, C5-OH | 39001-3 |
36503 | Benzoylcarnitine | 39615-0 |
36504 | Heptanoylcarnitine, C7 | 55871-8 |
10297 | 3-OH-hexanoylcarnitine, C6-OH | 30236-4 |
36505 | Phenylacetylcarnitine | 90237-9 |
36506 | Salicylcarnitine | 90238-7 |
10298 | Octenoylcarnitine, C8:1 | 30541-7 |
10299 | Octanoylcarnitine, C8 | 30540-9 |
36507 | Malonylcarnitine, C3-DC | 55940-1 |
36508 | Decadienoylcarnitine, C10:2 | 53471-9 |
10301 | Decenoylcarnitine, C10:1 | 30328-9 |
10302 | Decanoylcarnitine, C10 | 30327-1 |
36509 | Methylmalonyl-/succinylcarn, C4-DC | 51415-8 |
36510 | 3-OH-decenoylcarnitine, C10:1-OH | 82478-9 |
10304 | Glutarylcarnitine, C5-DC | 30349-5 |
10305 | Dodecenoylcarnitine, C12:1 | 30332-1 |
10306 | Dodecanoylcarnitine, C12 | 30331-3 |
36511 | 3-Methylglutarylcarnitine, C6-DC | 39002-1 |
36512 | 3-OH-dodecenoylcarnitine, C12:1-OH | 59195-8 |
10307 | 3-OH-dodecanoylcarnitine, C12-OH | 30233-1 |
10308 | Tetradecadienoylcarnitine, C14:2 | 30564-9 |
10309 | Tetradecenoylcarnitine, C14:1 | 30566-4 |
10310 | Tetradecanoylcarnitine, C14 | 30565-6 |
36513 | Octanedioylcarnitine, C8-DC | 39014-6 |
10311 | 3-OH-tetradecenoylcarnitine C14:1OH | 30190-3 |
10312 | 3-OH-tetradecanoylcarnitine, C14-OH | 30238-0 |
10313 | Hexadecenoylcarnitine, C16:1 | 30357-8 |
10314 | Hexadecanoylcarnitine, C16 | 30356-0 |
10315 | 3-OH-hexadecenoylcarnitine,C16:1-OH | 30235-6 |
10316 | 3-OH-hexadecanoylcarnitine, C16-OH | 30234-9 |
10317 | Octadecadienoylcarnitine, C18:2 | 30534-2 |
10318 | Octadecenoylcarnitine, C18:1 | 30542-5 |
10319 | Octadecanoylcarnitine, C18 | 30560-7 |
36514 | Dodecanedioylcarnitine, C12-DC | 55855-1 |
10320 | 3-OH-octadecadienoylcarn, C18:2-OH | 30237-2 |
10321 | 3-OH-octadecenoylcarnitine C18:1-OH | 30312-3 |
36515 | 3-OH-octadecanoylcarnitine, C18-OH | 35656-8 |
10322 | Comment (ACRN) | 48767-8 |
Clinical Reference
1. 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 Feb;23(2):249-258
2. Matern D: Acylcarnitines, including in vitro loading tests. In: Blau N, Duran M, Gibson KM, eds: Laboratory Guide to the Methods in Biochemical Genetics. Springer Verlag; 2008:171-206
3. Rinaldo P, Cowan TM, Matern D: Acylcarnitine profile analysis. Genet Med. 2008 Feb;10(2):151-156
4. Smith EH, Matern D: Acylcarnitine analysis by tandem mass spectrometry. Curr Protoc Hum Genet. 2010 Jan;Chap 17:Unit 17.8.1-20
5. Elizondo G, Matern D, Vockley J, Harding CO, Gillingham MB. Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD. Mol Genet Metab. 2020 Sep-Oct;131(1-2):90-97
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 Feb;23[2]:249-258)
Report Available
2 to 5 daysReject Due To
Gross hemolysis | OK |
Gross lipemia | OK |
Gross icterus | OK |
Method Name
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.