Article
Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing.
Heart rhythm - 1 Oct 2014
Priest James R, Ceresnak Scott R, Dewey Frederick E, Malloy-Walton Lindsey E, Dunn Kyla, Grove Megan E, Perez Marco V, Maeda Katsuhide, Dubin Anne M, Ashley Euan A
Abstract excerpt
BACKGROUND: The advent of clinical next generation sequencing is rapidly changing the landscape of rare disease medicine. Molecular diagnosis of long QT syndrome (LQTS) can affect clinical management, including risk stratification and selection of pharmacotherapy on the basis of the type of ion channel affected, but results from the current gene panel testing requires 4-16 weeks before return to clinicians....
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