Abstract
Genetic disorders are known to be a significant cause of paediatric morbidity and mortality with 13-15% of children admitted to intensive care units estimated to have an underlying genetic diagnosis. National Rapid exome sequencing was introduced by NHS England on 1st October 2019. It is indicated for acutely unwell children with a likely monogenic disorder, usually in the neonatal or paediatric intensive care setting, or to inform a current pregnancy where there was a previously affected fetus or child.
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