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Test Code ACRNS Acylcarnitines, Quantitative, Serum


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: Serum gel

Acceptable: Red top

Submission Container/Tube: Plastic vial

Specimen Volume: 0.1 mL

Collection Instructions: Centrifuge and aliquot serum into plastic vial.


Useful For

Diagnosis of fatty acid oxidation disorders and several organic acidurias using serum specimens

 

Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

Reporting Name

Acylcarnitines, Quantitative, S

Specimen Type

Serum

Specimen Minimum Volume

0.04 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Serum Frozen (preferred) 60 days
  Refrigerated  21 days
  Ambient  72 hours

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

Interpretation

An interpretive report will be 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 not sufficient to conclusively establish a diagnosis of a particular disease. To verify a preliminary diagnosis based on an acylcarnitine analysis, independent biochemical (eg, in vitro enzyme assay) 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

Day(s) Performed

Monday through Friday

Report Available

2 to 5 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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
ACRNS Acylcarnitines, Quantitative, S 43433-2

 

Result ID Test Result Name Result LOINC Value
92134 Acetylcarnitine, C2 30191-1
92135 Acrylylcarnitine, C3:1 43235-1
92136 Propionylcarnitine, C3 30551-6
92137 Formiminoglutamate, FIGLU 79628-4
92138 Iso-/Butyrylcarnitine, C4 35655-0
92139 Tiglylcarnitine, C5:1 51416-6
92140 Isovaleryl-/2-Methylbutyrylcarn C5 30531-8
92141 3-OH-iso-/butyrylcarnitine, C4-OH 39000-5
92142 Hexenoylcarnitine, C6:1 74540-6
92143 Hexanoylcarnitine, C6 30358-6
92144 3-OH-isovalerylcarnitine, C5-OH 39001-3
92145 Benzoylcarnitine 39615-0
92146 Heptanoylcarnitine, C7 55871-8
92147 3-OH-hexanoylcarnitine, C6-OH 30236-4
92148 Phenylacetylcarnitine 90237-9
92149 Salicylcarnitine 90238-7
92150 Octenoylcarnitine, C8:1 30541-7
92151 Octanoylcarnitine, C8 30540-9
92152 Malonylcarnitine, C3-DC 55940-1
92153 Decadienoylcarnitine, C10:2 53471-9
92154 Decenoylcarnitine, C10:1 30328-9
92155 Decanoylcarnitine, C10 30327-1
92156 Methylmalonyl-/succinylcarn, C4-DC 51415-8
92157 3-OH-decenoylcarnitine, C10:1-OH 82478-9
92158 Glutarylcarnitine, C5-DC 30349-5
92159 Dodecenoylcarnitine, C12:1 30332-1
92160 Dodecanoylcarnitine, C12 30331-3
92161 3-Methylglutarylcarnitine, C6-DC 39002-1
92162 3-OH-dodecenoylcarnitine, C12:1-OH 59195-8
92163 3-OH-dodecanoylcarnitine, C12-OH 30233-1
92164 Tetradecadienoylcarnitine, C14:2 30564-9
92165 Tetradecenoylcarnitine, C14:1 30566-4
92166 Tetradecanoylcarnitine, C14 30565-6
92167 Octanedioylcarnitine, C8-DC 39014-6
92168 3-OH-tetradecenoylcarnitine C14:1OH 30190-3
92169 3-OH-tetradecanoylcarnitine, C14-OH 30238-0
92170 Hexadecenoylcarnitine, C16:1 30357-8
92171 Hexadecanoylcarnitine, C16 30356-0
92172 3-OH-hexadecenoylcarnitine,C16:1-OH 30235-6
92173 3-OH-hexadecanoylcarnitine, C16-OH 30234-9
92174 Octadecadienoylcarnitine, C18:2 30534-2
92175 Octadecenoylcarnitine, C18:1 30542-5
92176 Octadecanoylcarnitine, C18 30560-7
92177 Dodecanedioylcarnitine, C12-DC 55855-1
92178 3-OH-octadecadienoylcarn, C18:2-OH 30237-2
92179 3-OH-octadecenoylcarnitine C18:1-OH 30312-3
92180 3-OH-octadecanoylcarnitine, C18-OH 35656-8
92181 Comment (ACRNS) 46252-3