Genetic tests’ expanding role

THE ability to provide a unifying diagnosis for a child with a developmental disorder is important to parents of children with congenital malformations, dysmorphic syndromes and disorders of growth.

In this setting, testing is undertaken usually after specialist review by a paediatrician or clinical geneticist.

A genetic diagnosis may provide confirmation of the clinical problem, guidance about health screening and early intervention, removal of guilt, and clarification of educational issues for parents.

Testing may have been undertaken years