Acylcarnitine Profile, Quantitative, Plasma

CPT: 82017
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Test Details

Use

Used in the diagnosis and monitoring of inherited disorders of fatty acid oxidation and organic acidurias. May be used as a follow-up test to some abnormal newborn screen results.

Limitations

False-negative results can occur with acylcarnitine profiling, especially when the patient is carnitine deficient, is affected with a milder variant of a disorder, or when clinical condition or dietary supplementation causes secondary changes to the profile. Results of acylcarnitine profiling should be interpreted in the context of clinical presentation as well as other laboratory tests, which may include urine organic acid analysis and molecular testing.

Methodology

Flow injection/tandem mass spectrometry

Specimen Requirements

Specimen

Plasma, frozen

Volume

0.5 mL

Minimum Volume

0.1 mL (Note: This volume does not allow for repeat testing)

Container

Green-top (sodium heparin) tube

Collection

Transfer plasma to a plastic transport tube and freeze. To avoid delays in turnaround time when requesting multiple tests on frozen specimens, please submit separate frozen specimens for each test requested.

Storage Instructions

Freeze

Causes for Rejection

Specimen thawed or not frozen; gross hemolysis; specimen type other than frozen plasma

Clinical Information

References

Applied Biosystems. Chemoview Instructions. March 15, 2005.
Bennett M. Laboratory Medicine Practice Guidelines−Follow-up Testing for Metabolic Diseases Identified by Expanded Newborn Screening Using Tandem Mass Spectrometry. Washington DC: AACC Press;2009.
Rinaldo P, Cowan TM, Matern D. Acylcarnitine profile analysis. Genet Med. 2008 Feb; 10(2):151-156.18281923

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
070228 Acylcarnitine Profile, Plasma 070081 C2 umol/L 30191-1
070228 Acylcarnitine Profile, Plasma 070040 C3 umol/L 30551-6
070228 Acylcarnitine Profile, Plasma 070041 C3-Dicarboxylic umol/L 55940-1
070228 Acylcarnitine Profile, Plasma 070042 C4 umol/L 51413-3
070228 Acylcarnitine Profile, Plasma 070043 C4-Hydroxy umol/L 39000-5
070228 Acylcarnitine Profile, Plasma 070119 C4-Dicarboxylic umol/L 39010-4
070228 Acylcarnitine Profile, Plasma 070044 C5 umol/L 30531-8
070228 Acylcarnitine Profile, Plasma 070048 C5:1 umol/L 69573-4
070228 Acylcarnitine Profile, Plasma 070049 C5-Hydroxy umol/L 51412-5
070228 Acylcarnitine Profile, Plasma 070051 C5-Dicarboxylic umol/L 30349-5
070228 Acylcarnitine Profile, Plasma 070057 C6 umol/L 30358-6
070228 Acylcarnitine Profile, Plasma 070058 C8 umol/L 30540-9
070228 Acylcarnitine Profile, Plasma 070059 C10 umol/L 30327-1
070228 Acylcarnitine Profile, Plasma 070061 C10:1 umol/L 30328-9
070228 Acylcarnitine Profile, Plasma 070062 C10:2 umol/L 53471-9
070228 Acylcarnitine Profile, Plasma 070063 C12 umol/L 30331-3
070228 Acylcarnitine Profile, Plasma 070064 C14 umol/L 30565-6
070228 Acylcarnitine Profile, Plasma 070065 C14:1 umol/L 30566-4
070228 Acylcarnitine Profile, Plasma 070066 C14:2 umol/L 30564-9
070228 Acylcarnitine Profile, Plasma 070067 C14-Hydroxy umol/L 30238-0
070228 Acylcarnitine Profile, Plasma 070068 C16 umol/L 30356-0
070228 Acylcarnitine Profile, Plasma 070069 C16:1 umol/L 30357-8
070228 Acylcarnitine Profile, Plasma 070070 C16:1-Hydroxy umol/L 30235-6
070228 Acylcarnitine Profile, Plasma 070071 C16-Hydroxy umol/L 30234-9
070228 Acylcarnitine Profile, Plasma 070072 C18 umol/L 30560-7
070228 Acylcarnitine Profile, Plasma 070073 C18:1 umol/L 30542-5
070228 Acylcarnitine Profile, Plasma 070074 C18:2 umol/L 30534-2
070228 Acylcarnitine Profile, Plasma 070075 C18-Hydroxy umol/L 35656-8
070228 Acylcarnitine Profile, Plasma 070076 C18:1-Hydroxy umol/L 30312-3
070228 Acylcarnitine Profile, Plasma 070077 C18:2-Hydroxy umol/L 30237-2
070228 Acylcarnitine Profile, Plasma 070082 Interpretation 46252-3
070228 Acylcarnitine Profile, Plasma 070079 Director Review 72486-4
070228 Acylcarnitine Profile, Plasma 070080 Methodology 49549-9

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