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Article

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

1 Feb 2016

Abstract excerpt

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 lengthy turnaround times and high cost. Here, we describe CFseq, a highly sensitive, specific, rapid (<3 days), and...

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PMID: 26847993
DOI: 10.1016/j.jmoldx.2015.11.005

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