Oregon Health & Science University

Dh Technologies Development Pte. Ltd.

Robert D Steiner

Andrea DeBarber

Subhasish Purkayastha

Michal Weinstock

A method, a labeling reagent, sets of labeling reagents, and labeling techniques are provided for the analysis of ketosterol biomarkers such as bile acid precursors from human plasma, serum or whole blood. This method is used for new born screening for Cerebrotendinous Xanthomatosis (CTX). Methods for labeling, analyzing, and quantifying ketosterol biomarkers are also disclosed as are methods that also use mass spectrometry.

Analysis of a panel of cerebrotendinous xanthomatosis biomarkers using site specific derivation and LC/MS/MS workflow

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.

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Portland, MA, United States of America

Robert D Steiner