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Follow-Up Testing for Metabolic Diseases Identified by Expanded Newborn Screening Using Tandem Mass Spectrometry

Follow-up Testing for Metabolic Diseases Identified by Expanded Newborn Screening
  • Copyright:2009
  • Pages:58

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At the time of publication of this document, approximately 98% of all babies born in the United States are provided with expanded newborn screening for metabolic diseases by tandem mass spectrometry. The increased numbers of different metabolic diseases that are identifiable by tandem mass spectrometry also increases the complexity of testing required for confirmation of diagnosis. Confirmatory testing is a critical component of the whole process, which may involve additional metabolite measurement, enzyme assay, or molecular testing. We recognize the importance of establishing guidelines for systematic, consistent, and appropriate disease confirmation in the clinical laboratory and also guidelines for monitoring efficacy of therapeutic intervention and patient well-being.