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Quantitative determination of acylcarnitine profile in DBS by the LC-MS/MS technique

  • Test objective: Detection and monitoring of inborn defects of metabolism, including disorders of beta-oxidation of fatty acids and organic acidaemias. This test may also be helpful:
    • as a second-tier test in case of abnormal results of newborn screening
    • in case of abnormal results of other tests, such as organic acid profile
    • in case of the need to rule out metabolic disorders before initiating a ketogenic diet.
  • Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS).
  • Analysed substances:
    acylcarnitines: C0, C2, C3, C3DC, C4, C4-OH, C4DC, C5:1, C5, C5-OH, C5DC, C6, C6DC, C8, C10:2, C10, C12, C14, C14:1, C16, C16-OH, C18 :1, C18, C18-OH
  • Type of test material: Dried blood spot
  • Test category: DBS, Metabolomics