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 screening for conditions associated with altered sterols by derivatization of sterols to provide suitable sensitivity and selectivity of detection using tandem mass spectrometry with electrospray ionization. Such testing may be performed to detect and/or screen for conditions such as Smith-Lemli-Opitz syndrome, familial hypercholesterolaemia, and cerebrotendinous xanthomatosis, or certain bile acid disorders.