Case series: Three cases emphasizing importance of genetics in PICU

Abstract

Individual genetic disorders are rare but cumulative prevalence of these disorders is high. Genetic diagnostic armamentarium has expanded with introduction of next generation sequencing techniques. A qualified geneticist can be of invaluable help in applying suitable genetic test and analyzing the results. We present 3 cases highlighting how involving qualified geneticist in daily round can help in detecting rare disorder even when clinical picture is not suggestive of a genetic disorder.

Keywords

• exome sequencing
• genetic tests
• geneticist
• pediatric intensive care units