title: Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring.
abstract: Smith-Lemli-Opitz syndrome (SLOS) patients have increased 7- and 8-dehydrocholesterol (DHC) concentrations. Using gas chromatography-mass spectrometry with selected ion monitoring we investigated whether storage time (24 h, 7 and 30 days, and 22 months at room temperature or at 4 degrees C) affected DHC concentrations in whole blood spots (WBSs) from SLOS patients and normal controls. Our results suggest that WBS sterol analysis can be used for SLOS screening and possibly related inborn errors of sterol metabolism with a 100% sensitivity and specificity on specimens stored for up to 30 days, either at room temperature or 4 degrees C. After 22 months of storage at both temperature SLOS samples can be indistinguishable from control samples. Therefore, great caution should be used to exclude SLOS by sterol analysis of WBSs stored for a long time.
authors.affiliation: Dipartimento di Biochimica e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy.
authors.forename: Gaetano
authors.initials: G
authors.lastname: Corso
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Rossi
authors.forename: Brasi Daniele
authors.initials: BD
authors.lastname: De
authors.forename: Immacolata
authors.initials: I
authors.lastname: Rossi
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
authors.forename: Russo Antonio
authors.initials: RA
authors.lastname: Dello
mesh_terms: D002775:Cholestadienols / Q000097:blood*; D003684:Dehydrocholesterols / Q000097:blood*; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D006801:Humans; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
chemical_list: D002775:Cholestadienols; D003684:Dehydrocholesterols; C026359:cholesta-5,8-dien-3 beta-ol; C016705:7-dehydrocholesterol