Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis

Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis

All newborn screening laboratories in the United States and many worldwide screen for cystic fibrosis. Most laboratories use a second-tier genotyping assay to identify a panel of mutations in the CF transmembrane regulator ( CFTR ) gene. Centers for Disease Control and Prevention’s Newborn Screening...

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Bibliographic Details
Main Authors: Miyono M. Hendrix MS, Stephanie L. Foster BS, Suzanne K. Cordovado PhD
Format: Article
Language:English
Published: SciELO 2016-08-01
Series:Journal of Inborn Errors of Metabolism and Screening
Online Access:https://doi.org/10.1177/2326409816661358

Internet

https://doi.org/10.1177/2326409816661358

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