Neonatology 2016: CentoICU: A time sensitive targeted panel approach for genetic testing in neonatal and pediatric medical care units

Whole exome and whole genome sequencing allows to searched for multiple genetic conditions during one step, reducing the time and price to achieve a diagnostic decision. These technologies have also entered the critical care units (including neonatal) where time to diagnosis is tremendously essential not only to direct treatment decisions and treatment efficacy but also to guage effectiveness of procedures like surgery or transplantation. While it isn't uncommon to use FISH, karyotyping, aCGH and single gene sequencing in these critical units, the emergence of NGS promises to spot both sequence variants with copy number variants within one test, making the whole procedure significantly simpler during a clinical setting. the bulk of the genetic disorders- especially autosomal recessive metabolic diseases or de novo cases- typically appear within the ICU without prior indication