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Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories
Michael H Gelb1, Khaja Basheeruddin2, Alberto Burlina3
1Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA 98195, USA.
Tandem mass spectrometry (MS/MS) is vital for newborn screening (NBS). Liquid chromatography-MS/MS (LC-MS/MS) offers advantages over flow-injection analysis-MS/MS (FIA-MS/MS) for multiplex screening, providing high throughput and cost-effectiveness.
Area of Science:
- Biochemistry
- Analytical Chemistry
- Clinical Diagnostics
Background:
- Tandem mass spectrometry (MS/MS) is a universal platform for analyzing enzymatic activities and biomarkers in dried blood spots (DBS).
- Flow-injection analysis MS/MS (FIA-MS/MS) is the most common MS/MS application in newborn screening (NBS).
- Liquid chromatography-MS/MS (LC-MS/MS) has been used for second-tier NBS testing and is now applied for primary screening of new conditions.
Purpose of the Study:
- To review current LC-MS/MS assays for NBS.
- To compare the maintenance requirements of LC-MS/MS and FIA-MS/MS systems.
- To highlight the advantages of LC-MS/MS for multiplex NBS.
Main Methods:
- Review of existing LC-MS/MS assays for NBS.
- Comparative analysis of maintenance for LC-MS/MS and FIA-MS/MS.
- Evaluation of LC-MS/MS for high-throughput, multiplex NBS.
Main Results:
- LC-MS/MS is increasingly used for primary NBS, especially for conditions not adequately covered by other methods.
- Maintenance requirements for LC-MS/MS and FIA-MS/MS are comparable.
- LC-MS/MS enables multiplex screening for more diseases cost-effectively with high throughput and adequate turnaround time.
Conclusions:
- LC-MS/MS is a valuable tool for expanding NBS capabilities.
- The adoption of LC-MS/MS for primary NBS is growing.
- LC-MS/MS offers significant advantages for cost-effective, high-throughput, multiplex newborn screening.
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