Newborn screening for genetic disorders: Current status and prospects for the future

Newborn screening for genetic disorders: Current status and prospects for the future

ABSTRACT Newborn screening (NBS) is a public health service aimed at identifying infants with severe genetic disorders, thus providing effective treatment early enough to prevent or ameliorate the onset of symptoms. Current NBS uses biochemical analysis of dried blood spots, predominately with time‐...

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Bibliographic Details
Main Authors: Si Ding, Lianshu Han
Format: Article
Language:English
Published: Wiley 2022-12-01
Series:Pediatric Investigation
Subjects:
Genetic disorders
Genetic testing
Newborn screening
Next‐generation sequencing
Tandem mass spectrometry
Online Access:https://doi.org/10.1002/ped4.12343

Internet

https://doi.org/10.1002/ped4.12343

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