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Test Code ACRN Acylcarnitines, Quantitative, Plasma

Reporting Name

Acylcarnitines, Quantitative, P

Useful 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 Rochester

Specimen Type

Plasma


Necessary 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

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It 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

Interpretation

An interpretive report is provided. The individual quantitative results support the interpretation of the acylcarnitine profile but are not diagnostic by themselves. The interpretation is based on pattern recognition.

 

Abnormal results are typically not sufficient to conclusively establish a diagnosis of a particular disease. To verify a preliminary diagnosis based on an acylcarnitine analysis, independent biochemical or molecular genetic analyses are required.

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;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;10(2):151-156

4. Smith EH, Matern D. Acylcarnitine analysis by tandem mass spectrometry. Curr Protoc Hum Genet. 2010;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;131(1-2):90-97

Report Available

2 to 5 days

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