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

ABSTRACT: 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 cost-effective assay for comprehensive CFTR gene analysis from dried blood spots, the common newborn screening specimen. The unique design of CFseq integrates optimized dried blood spot sample processing, a novel multiplex amplification method from as little as 1 ng of genomic DNA, and multiplex next-generation sequencing of 96 samples in a single run to detect all relevant CFTR mutation

SUBMITTER: Lefterova MI 

PROVIDER: S-EPMC4816703 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature