Acylcarnitine Profile, Quantitative, Plasma

Plasma, frozen

0.5 mL

Green-top (sodium heparin) tube

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.

Freeze

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.

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.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Flow injection/tandem mass spectrometry

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