Acylcarnitine profile analysis

Genet Med. 2008 Feb;10(2):151-6. doi: 10.1097/GIM.0b013e3181614289.


These Technical Standards and Guidelines were developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory geneticist should apply his or her own professional judgment to the specific circumstances presented by the individual patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of the date any particular standard or guidelines was adopted, and to consider other relevant medical and scientific information that becomes available after that date.

Publication types

  • Guideline

MeSH terms

  • Biomarkers / analysis*
  • Carnitine / analogs & derivatives*
  • Carnitine / analysis
  • Genes, Recessive
  • Genetics, Medical / methods*
  • Humans
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / epidemiology
  • Prevalence
  • Spectrometry, Mass, Electrospray Ionization
  • Tandem Mass Spectrometry


  • Biomarkers
  • acylcarnitine
  • Carnitine