Gelb, Michael HMichael HGelbBasheeruddin, KhajaKhajaBasheeruddinBurlina, AlbertoAlbertoBurlinaChen, Hsiao-JanHsiao-JanChenYIN-HSIU CHIENDizikes, GeorgeGeorgeDizikesDorley, ChristineChristineDorleyGiugliani, RobertoRobertoGiuglianiHietala, AmyAmyHietalaHong, XinyingXinyingHongKao, Shu-MinShu-MinKaoKhaledi, HamidHamidKhalediKlug, TracyTracyKlugKubaski, FrancyneFrancyneKubaskiLiao, Hsuan-ChiehHsuan-ChiehLiaoMartin, MonicaMonicaMartinManning, AdrienneAdrienneManningOrsini, JosephJosephOrsiniPeng, YinYinPengRanieri, EnzoEnzoRanieriRohrwasser, AndreasAndreasRohrwasserSzabo-Fresnais, NicolasNicolasSzabo-FresnaisTurgeon, Coleman TColeman TTurgeonVaz, Frédérick MFrédérick MVazWang, Li-YunLi-YunWangMatern, DietrichDietrichMatern2023-01-112023-01-112022-11-282409-515Xhttps://scholars.lib.ntu.edu.tw/handle/123456789/627120Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS). Among the MS/MS applications in NBS, the most common is flow-injection analysis (FIA-) MS/MS, where the sample is introduced as a bolus injection into the mass spectrometer without the prior fractionation of analytes. Liquid chromatography combined with MS/MS (LC-MS/MS) has been employed for second-tier tests to reduce the false-positive rate associated with several nonspecific screening markers, beginning two decades ago. More recently, LC-MS/MS has been applied to primary screening for new conditions for which FIA-MS/MS or other methods, including genomic screening, are not yet adequate. In addition to providing a list of the currently used LC-MS/MS-based assays for NBS, the authors share their experience regarding the maintenance requirements of LC-MS/MS vs. FIA-MS/MS systems. The consensus is that the maintenance of LC-MS/MS and FIA-MS/MS instrumentation is similar, and LC-MS/MS has the advantage of allowing for a larger number of diseases to be screened for in a multiplex, cost-effective fashion with a high throughput and an adequate turnaround time.endried blood spots; inborn errors of metabolism; liquid chromatography; newborn screening; reflex testing; tandem mass spectrometry[SDGs]SDG3Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratoriesreview10.3390/ijns8040062365473792-s2.0-85144735897https://api.elsevier.com/content/abstract/scopus_id/85144735897