Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
The analysis of acylcarnitine profiles is performed for use in screening of inborn errors of metabolism, specifically fatty acid oxidation disorders, and certain organic acidemias (acidurias). In some cases, results are diagnostic of a specific disorder, while in other cases, further testing may be needed.
Interpretive report provided.
5 - 10 days
- Acylcarnitine Analysis Plasma
- Acylcarnitine Profile
- Acylcarnitine Plasma
STAT analysis must be approved by Pediatric Geneticist on call. Stat analytic time 3 hours post acceptance and specimen being received in MMGL Biochemical Genetics Lab.
Collect specimen in a green top tube (sodium heparin), Centrifuge within 2 hours of collection and aliquot plasma and freeze (preferred) or store at refrigerated temperature (2-8°C) for up to 7 days. Grossly hemolytic specimens are unacceptable. Plasma specimens stored at room temperature greater than 2 hours are unacceptable.
Any abnormal plasma acylcarnitine profiles will be reported to the biochemical genetics lab director for evaluation of a possible metabolic disorder. Test may include medical geneticist interpretation of results at an additional charge. By ordering this test, the clinician acknowledges that a physician interpretation will be performed and billed as a separate additional charge if indicated.