Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.

ABSTRACT: Next generation sequencing based diagnosis has emerged as a promising tool for evaluating critically ill neonates and children. However, there is limited data on its utility in developing countries. We assessed its diagnostic rate and clinical impact on management of pediatric patients with a suspected genetic disorder requiring critical care. The study was conducted at a single tertiary hospital in Northern India. We analyzed 70 children with an illness requiring intensive care and obtained a precise molecular diagnosis in 32 of 70 probands (45.3%) using diverse sequencing techniques such as clinical exome, whole exome, and whole genome. A significant change in clinical outcome was observed in 13 of 32 (40.6%) diagnosed probands with a change in medication in 11 subjects and redirection t

SUBMITTER: Bhatia S 

PROVIDER: S-EPMC11369102 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature