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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2016
Assuntos:
Regular Article
Acesso em linha: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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