Test Code ACYL Acylcarnitines, Quantitative, Plasma
Performing Laboratory
Mount Sinai Genomics, Inc.
Methodology
Liquid Chromatography/Mass Spectrometry
Reference Values
See report. TAT 4 - 6 Days
Units: uM
Includes:
C2
C3
C4
C5:1
C5
C4-OH
C6
C5-OH
C8:1
C8
C3-DC
C10:2
C10:1
C10
C4-DC
C5-DC/C10-OH
C12:1
C12
C6-DC
C12:1-OH
C12-OH
C14:2
C14:1
C14
C14:1-OH
C14-OH
C16:1
C16
C16:1-OH
C16-OH
C18:2
C18:1
C18
C18:2-OH
C18:1-OH
C18-OH
Test Classification and CPT Coding
80500
82017
82492
Specimen Required
Container/Tube: Green-top (sodium
heparin)
Specimen: 1-2 mL plasma (minimum volume: 0.5
mL)
Transport Temperature: Frozen
Stability: 2 - 8 Weeks Frozen
Note: Centrifuge immediately after collection and pour off plasma in transport vial. Freeze immediately.
Day(s) and Time(s) Performed
Monday through Friday
Useful For
Acylcarnitines are intermediate metabolites involved with fatty acid oxidation and detoxification of acylCoAs from organic acid metabolism. The test is valuable in diagnosing and monitoring patients with a clinical suspicion or positive newborn screen for fatty acid oxidation disorders and some organic acidemias. The acylcarnitine profile is obtained by liquid chromatography and tandem mass spectrometry which provides quantitative evaluations of individual acylcarnitine species as well as the metabolic profile in plasma and dried blood spot samples. For more accurate diagnosis, it is recommended that acylcarnitine analysis should be performed in conjunction with plasma amino acid analysis and urinary organic acid analysis for initial evaluation of patients.
Computer Interface Code
PDM # 5910515