Over a third of children presenting with unexplained end-stage renal disease may have an underlying monogenic cause. Establishing a genetic diagnosis can inform management, treatment and genomic counselling decisions.

Noonan syndrome is typically inherited in an autosomal dominant pattern and can present pre- or postnatally with a range of clinical features, including raised nuchal translucency, congenital heart disease, early feeding difficulties, short stature and distinct facial features.

A significant proportion of babies or children admitted to neonatal or paediatric intensive care units (NICU or PICU) will have an underlying genetic condition that is responsible for their clinical presentation.

Patau syndrome (trisomy 13) is a genetic condition resulting from the presence of three (rather than the usual two) copies of chromosome 13. It has varied clinical features, commonly including intrauterine growth retardation, microcephaly, cardiac defects, small or absent close-set eyes and extra fingers. It is a severe condition that often results in stillbirth or death in infancy.

Edwards syndrome (trisomy 18) is a severe, multi-system genetic condition resulting from the presence of three (rather than the usual two) copies of chromosome 18. It is often identified during prenatal screening, but may present postnatally.

Genomic testing should be considered for infants or young children presenting with early onset epilepsy or epileptic encephalopathy because there are numerous genetic causes with overlapping clinical features, and genomic testing may identify appropriate gene-directed precision therapies.

Hypotonia, which presents in infants as floppiness, can have an acquired, central or neuromuscular cause. Genomic testing is an important part of investigating a hypotonic infant because almost 50% will have a genetic condition.