The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism
Abstract
This review is intended to serve as a practical guide for geneticists to current applications of tandem mass spectrometry to newborn screening. By making dried-blood spot analysis more sensitive, specific, reliable, and inclusive, tandem mass spectrometry has improved the newborn detection of inborn errors of metabolism. Its innate ability to detect and quantify multiple analytes from one prepared blood specimen in a single analysis permits broad recognition of amino acid, fatty acid, and organic acid disorders. An increasing number of newborn screening programs are either utilizing or conducting pilot studies with tandem mass spectrometry. It is therefore imperative that the genetics community be familiar with tandem mass spectrometric newborn screening.
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Most newborn screening programs now detect more than 20 individual disorders from a single blood sample.
“Most programs now detect more than 20 individual disorders from a single blood sample (Chace et al., 2002).”
From Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us? (2012) · cites this paper as Chace et al., 2002
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References 110 · Cited by 210
- Authors
- Chace, D. H., Kalas, T. A., & Naylor, E. W.
- Affiliations
- Division of BioAnalytical Chemistry and Mass Spectrometry, Neo Gen Screening, Bridgeville, Pennsylvania 15017;, ,
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2002-09
- Volume
- 3
- Issue
- 1
- Pages
- 17-45
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- OpenAlex
- W2142742590
- Cited by
- 210
- References
- 110
- Citations by year
- 2026: 3 · 2025: 9 · 2024: 5 · 2023: 3 · 2022: 8 · 2021: 10 · 2020: 5 · 2019: 9 · 2018: 6 · 2017: 6 · 2016: 8 · 2015: 11 · 2014: 13 · 2013: 9 · 2012: 8
- FWCI
- 2.21
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annual Review of Genomics and Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Metabolomics and Mass Spectrometry Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- tandem mass spectrometry, newborn screening, inborn errors of metabolism, amino acid metabolism disorders, organic acid metabolism disorders, multiple analyte detection
- MeSH terms
- Amino Acid Metabolism, Inborn Errors, Genetics, Humans, Infant, Newborn, Mass Spectrometry, Neonatal Screening
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