"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.
* Describe the state-of-the-art next generation sequencing technology that is improving precision medicine in NICU patients.
* Explain the advantages of a rapid turnaround inherited disease panel (RapidSeq Panel) in relation to whole exome and whole genome sequencing.
* Discuss the limitations, case selections, and interesting cases."