Purpose Genetic testing has advanced significantly since the publication of the 2011
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …

Background Rapid next-generation sequencing (NGS) offers the potential to shorten the
diagnostic process and improve the care of acutely ill children. The goal of this study was to …

Importance Genomic testing in infancy guides medical decisions and can improve health
outcomes. However, it is unclear whether genomic sequencing or a targeted neonatal gene …

Background Clinical exome sequencing (CES) provides a comprehensive and effective
analysis of relevant disease-associated genes in a cost-effective manner compared to whole …

Background: Sequencing technologies, such as whole-exome sequencing (WES) and
whole-genome sequencing (WGS), have been increasingly applied to medical research in …

Abstract Purpose The 2015 American College of Medical Genetics and
Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for the …

Genetic disorders presenting in the neonatal period can have a significant impact on
morbidity and mortality. Early diagnosis can facilitate timely prognostic counseling to families …

Genetic disorders are a frequent cause of hospitalization, morbidity and mortality in pediatric
patients, especially in the neonatal or pediatric intensive care unit (NICU/PICU). In recent …

To identify next-generation-sequencing (NGS) clinical usability and to propose a standard
diagnostic routine for critically ill infants, aged less than 100 days and suspected of having a …

Given the rapid expansion of genetic testing in clinical practice and evolving coverage
decisions by payers, it is important that stakeholders understand basic aspects of economic …