Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories
Tandem 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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:8 |
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| Enthalten in: |
International journal of neonatal screening - 8(2022), 4 vom: 28. Nov. |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Gelb, Michael H [VerfasserIn] |
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| Links: |
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| Themen: |
Dried blood spots |
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| Anmerkungen: |
Date Revised 25.12.2022 published: Electronic Citation Status PubMed-not-MEDLINE |
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| doi: |
10.3390/ijns8040062 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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NLM350589232 |
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| 520 | |a Tandem 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 | ||
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| 700 | 1 | |a Burlina, Alberto |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Hsiao-Jan |e verfasserin |4 aut | |
| 700 | 1 | |a Chien, Yin-Hsiu |e verfasserin |4 aut | |
| 700 | 1 | |a Dizikes, George |e verfasserin |4 aut | |
| 700 | 1 | |a Dorley, Christine |e verfasserin |4 aut | |
| 700 | 1 | |a Giugliani, Roberto |e verfasserin |4 aut | |
| 700 | 1 | |a Hietala, Amy |e verfasserin |4 aut | |
| 700 | 1 | |a Hong, Xinying |e verfasserin |4 aut | |
| 700 | 1 | |a Kao, Shu-Min |e verfasserin |4 aut | |
| 700 | 1 | |a Khaledi, Hamid |e verfasserin |4 aut | |
| 700 | 1 | |a Klug, Tracy |e verfasserin |4 aut | |
| 700 | 1 | |a Kubaski, Francyne |e verfasserin |4 aut | |
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| 700 | 1 | |a Martin, Monica |e verfasserin |4 aut | |
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| 700 | 1 | |a Peng, Yin |e verfasserin |4 aut | |
| 700 | 1 | |a Ranieri, Enzo |e verfasserin |4 aut | |
| 700 | 1 | |a Rohrwasser, Andreas |e verfasserin |4 aut | |
| 700 | 1 | |a Szabo-Fresnais, Nicolas |e verfasserin |4 aut | |
| 700 | 1 | |a Turgeon, Coleman T |e verfasserin |4 aut | |
| 700 | 1 | |a Vaz, Frédérick M |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Li-Yun |e verfasserin |4 aut | |
| 700 | 1 | |a Matern, Dietrich |e verfasserin |4 aut | |
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