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Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis

Newborn screening for cystic fibrosis enables early detection and management of this debilitating genetic disease. Implementing comprehensive CFTR analysis using Sanger sequencing as a component of confirmatory testing of all screen-positive newborns has remained impractical due to relatively length...

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Bibliografiske detaljer
Udgivet i:J Mol Diagn
Main Authors: Lefterova, Martina I., Shen, Peidong, Odegaard, Justin I., Fung, Eula, Chiang, Tsoyu, Peng, Gang, Davis, Ronald W., Wang, Wenyi, Kharrazi, Martin, Schrijver, Iris, Scharfe, Curt
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Investigative Pathology 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4816703/
https://ncbi.nlm.nih.gov/pubmed/26847993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2015.11.005
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