Rapid High-Risk Diagnostic Testing for Newborns Using Targeted NGS | GenomeWeb
October 15, 2015
Sponsored by
Parabase

Rapid High-Risk Diagnostic Testing for Newborns Using Targeted NGS

Partner Webinar

Adjunct Professor of Pediatrics, Medical University of South Carolina

Director, Clinical and Client Services, Parabase Genomics 

This webinar will discuss the benefits of a rapid targeted next-generation sequencing (TNGS) panel, using dried blood spots, for second-tier newborn metabolic and hearing loss screening and its immediate utility for high-risk diagnostic testing in the neonatal intensive care unit. Speakers will share case reports on the application of TNGS for inherited metabolic disorders. 

While newborn screening has dramatically reduced infant morbidity and mortality for some genetic disorders, these improvements have not had a significant impact on most NICUs, where almost 478,000 infants are admitted each year. It's estimated that between 10 percent and 25 percent of all NICU admissions are the result of a genetic disease, with infants staying in the hospital approximately 40 percent longer than non-genetic cases. 

Due to the non-specific presentation of many of these genetic disorders, many infants are unable to receive a definitive diagnosis in a timely fashion or are misdiagnosed completely. 

This online seminar will discuss a rapid targeted NGS panel that can be used with standard dried blood spots in order to expand molecular diagnosis and precision medicine for hundreds of genetic diseases. 

The speakers will discuss the development of this methodology, its application for high-risk diagnosis in the NICU, and specific panels for second-tier newborn metabolic and hearing loss screening. Speakers will present results of routine screening and details from actual case reports.

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