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-) M...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-11-01
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| Series: | International Journal of Neonatal Screening |
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| Online Access: | https://www.mdpi.com/2409-515X/8/4/62 |
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| author | Michael H. Gelb Khaja Basheeruddin Alberto Burlina Hsiao-Jan Chen Yin-Hsiu Chien George Dizikes Christine Dorley Roberto Giugliani Amy Hietala Xinying Hong Shu-Min Kao Hamid Khaledi Tracy Klug Francyne Kubaski Hsuan-Chieh Liao Monica Martin Adrienne Manning Joseph Orsini Yin Peng Enzo Ranieri Andreas Rohrwasser Nicolas Szabo-Fresnais Coleman T. Turgeon Frédérick M. Vaz Li-yun Wang Dietrich Matern |
| author_facet | Michael H. Gelb Khaja Basheeruddin Alberto Burlina Hsiao-Jan Chen Yin-Hsiu Chien George Dizikes Christine Dorley Roberto Giugliani Amy Hietala Xinying Hong Shu-Min Kao Hamid Khaledi Tracy Klug Francyne Kubaski Hsuan-Chieh Liao Monica Martin Adrienne Manning Joseph Orsini Yin Peng Enzo Ranieri Andreas Rohrwasser Nicolas Szabo-Fresnais Coleman T. Turgeon Frédérick M. Vaz Li-yun Wang Dietrich Matern |
| author_sort | Michael H. Gelb |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T16:17:35Z |
| format | Article |
| id | doaj.art-41ab3a50602847f5af0ca36577a457d0 |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-09T16:17:35Z |
| publishDate | 2022-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-41ab3a50602847f5af0ca36577a457d02023-11-24T15:35:29ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2022-11-01846210.3390/ijns8040062Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening LaboratoriesMichael H. Gelb0Khaja Basheeruddin1Alberto Burlina2Hsiao-Jan Chen3Yin-Hsiu Chien4George Dizikes5Christine Dorley6Roberto Giugliani7Amy Hietala8Xinying Hong9Shu-Min Kao10Hamid Khaledi11Tracy Klug12Francyne Kubaski13Hsuan-Chieh Liao14Monica Martin15Adrienne Manning16Joseph Orsini17Yin Peng18Enzo Ranieri19Andreas Rohrwasser20Nicolas Szabo-Fresnais21Coleman T. Turgeon22Frédérick M. Vaz23Li-yun Wang24Dietrich Matern25Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA 98195, USANewborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60612, USADivision of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital Padova, 35128 Padova, ItalyThe Chinese Foundation of Health, Neonatal Screening Center, Taipei 110, TaiwanDepartment of Medical Genetics and Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei 100, TaiwanTennessee Department of Health, Division of Laboratory Services, Knoxville, TN 37920, USATennessee Department of Health, Division of Laboratory Services, Knoxville, TN 37920, USADepartment of Genetics UFRGS, Medical Genetics Service, HCPA, DASA and Casa dos Raros, Porto Alegre 91501970, BrazilNewborn Screening Laboratory, Minnesota Department of Health, St. Paul, MN 55164, USADepartments of Chemistry and Biochemistry, University of Washington, Seattle, WA 98195, USAThe Chinese Foundation of Health, Neonatal Screening Center, Taipei 110, TaiwanGelbChem LLC, 4000 Mason Road, #300, Seattle, WA 98105, USAMissouri Department of Health and Senior Services, P.O. Box 570, Jefferson City, MO 65102, USADepartment of Genetics UFRGS, Medical Genetics Service, HCPA, DASA and Casa dos Raros, Porto Alegre 91501970, BrazilDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USAWadsworth Center, New York State Department of Health, Newborn Screening Program, David Axelrod Institute, 120 New Scotland Ave., Albany, NY 12201, USAConnecticut Department of Public Health, Katherine A. Kelley Public Health Laboratory, Rocky Hill, CT 06067, USAWadsworth Center, New York State Department of Health, Newborn Screening Program, David Axelrod Institute, 120 New Scotland Ave., Albany, NY 12201, USANewborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60612, USAGenetics and Molecular Pathology, SA Pathology (WCH Site), Adelaide 5043, AustraliaUtah Department of Health and Human Services, Salt Lake City, UT 84129, USAUtah Department of Health and Human Services, Salt Lake City, UT 84129, USADepartment of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN 55902, USALaboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ Amsterdam, The NetherlandsTaipei Institute of Pathology, Taipei 103, TaiwanDepartment of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN 55902, USATandem 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.https://www.mdpi.com/2409-515X/8/4/62newborn screeningtandem mass spectrometryliquid chromatographydried blood spotsinborn errors of metabolismreflex testing |
| spellingShingle | Michael H. Gelb Khaja Basheeruddin Alberto Burlina Hsiao-Jan Chen Yin-Hsiu Chien George Dizikes Christine Dorley Roberto Giugliani Amy Hietala Xinying Hong Shu-Min Kao Hamid Khaledi Tracy Klug Francyne Kubaski Hsuan-Chieh Liao Monica Martin Adrienne Manning Joseph Orsini Yin Peng Enzo Ranieri Andreas Rohrwasser Nicolas Szabo-Fresnais Coleman T. Turgeon Frédérick M. Vaz Li-yun Wang Dietrich Matern Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories International Journal of Neonatal Screening newborn screening tandem mass spectrometry liquid chromatography dried blood spots inborn errors of metabolism reflex testing |
| title | Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories |
| title_full | Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories |
| title_fullStr | Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories |
| title_full_unstemmed | Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories |
| title_short | Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories |
| title_sort | liquid chromatography tandem mass spectrometry in newborn screening laboratories |
| topic | newborn screening tandem mass spectrometry liquid chromatography dried blood spots inborn errors of metabolism reflex testing |
| url | https://www.mdpi.com/2409-515X/8/4/62 |
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