Translating Molecular Technologies into Routine Newborn Screening Practice

Translating Molecular Technologies into Routine Newborn Screening Practice

As biotechnologies advance and better treatment regimens emerge, there is a trend toward applying more advanced technologies and adding more conditions to the newborn screening (NBS) panel. In the current Recommended Uniform Screening Panel (RUSP), all conditions but one, congenital hypothyroidism,...

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Bibliographic Details
Main Authors: Sarah M. Furnier, Maureen S. Durkin, Mei W. Baker
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
next generation sequencing
droplet digital polymerase chain reaction
real-time polymerase chain reaction
Tetra-primer amplification refractory mutation system–polymerase chain reaction
severe combined immunodeficiency
Online Access:https://www.mdpi.com/2409-515X/6/4/80

Internet

https://www.mdpi.com/2409-515X/6/4/80

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