TANDEM MASS SPECTROMETRY FOR DETECTING AND/OR SCREENING FOR CONDITIONS ASSOCIATED WITH ALTERED STEROLS

摘要

Embodiments of the present invention provide for detecting and/or screeni ng for conditions associated with altered sterols by dehvatization of sterol s to provide suitable sensitivity and selectivity of detection using tandem mass spectrometry with electrospray ionization. Such testing may be performe d to detect and/or screen for conditions such as Smith-Lemli-Opitz syndrome, familial hypercholesterolemia, and cerebrotendinous xanthomatosis, or certa in bile acid disorders.