Pediatricians significantly more often involved in the daily treatment of patients with congenital disorders than any other medical specialist. The increasing availability of next generation sequencing techniques during the last 5 years shows that most of these congenital disorders are of genetic resp. monogenic origin and offers tremendous opportunities but also challenges for diagnostics and treatment. This article provides an overview on the importance of genetic disorders in pediatrics, explains the advantages but also limitations of modern genetic techniques, such as exome sequencing and finally deals with the consequences for daily clinical care.     «

Pediatricians significantly more often involved in the daily treatment of patients with congenital disorders than any other medical specialist. The increasing availability of next generation sequencing techniques during the last 5 years shows that most of these congenital disorders are of genetic resp. monogenic origin and offers tremendous opportunities but also challenges for diagnostics and treatment. This article provides an overview on the importance of genetic disorders in pediatrics, expl...     »