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Rapid Sequencing of Known Mendelian Genes in NICU

 

A significant fraction of the 4,000 known single-gene disorders manifest symptoms in newborns. A rapid diagnosis of newborn diseases could make the difference between life and death, as well as reduce length of stay in the neonatal intensive care unit (NICU). A targeted panel of ~4,900 known disease-causing genes has been developed with a short turnaround time and a focused interpretation. This panel combines genetics etiology with phenotype to provide a comprehensive clinical understanding of disease in NICU.

Originally presented on March 20, 2019, in Salt Lake City, Utah.

Lecture Presenter

Rong Mao, MD, FACMG

Rong Mao, MD, FACMG

Section Chief, Molecular Genetics and Genomics
ARUP Laboratories
Professor of Pathology and Co-Director of the Clinical Molecular Genetics Fellowship Program
University of Utah School of Medicine

Dr. Mao is a professor of pathology and co-director of the Clinical Molecular Genetics Fellowship Program at the University of Utah School of Medicine. She received her MD from Capital University of Medicine in Beijing, China and her MS in molecular pathology from Beijing Union Medical College. She is board certified by the American Board of Medical Genetics and Genomics, with a subspecialty in clinical molecular genetics, and certified with the New York State Department of Health, with a subspecialty in genetic testing. She is a member of several professional societies, including American College of Medical Genetics and Genomics, Association for Molecular Pathology, and American Society of Human Genetics. Her research interests include the genotype-phenotype correlations in inborn errors of metabolism and genetic diseases in the RAS/MAPK pathway; she is also involved with implementing next-generation sequencing techniques into molecular diagnostics.

Objectives

After this presentation, participants will be able to:

  • Describe the state-of-the-art next-generation sequencing technology improving the precision medicine in NICU patients. 
  • Describe the collaboration between ARUP and Primary Children Medical Center (PCMC) NICU on the rapid sequencing of known Mendelian genes panel (RapidSeq Panel).
  • Explain the advantages of rapid turnaround RapidSeq Panel in relation to whole exome and whole genome sequencing. 
  • Discuss the limitations, case selections, and present the interesting cases.

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories