Paediatric genetic testing
Even though most children are born healthy, there are many children born with medical complications. Many of these birth defects are due to genetics. These birth defects results in diseases such as Down syndrome, sickle cell anaemia, Cystic fibrosis, congenital heart disease, Williams’ syndrome etc.
Genetic testing in paediatric patients is used in the investigation of a range of clinical concerns. These may be systemic syndromes, developmental delay, mental retardation, autistic spectrum disorders, neurodevelopmental disorders, short stature or delayed puberty, in-born errors of metabolism, multifactorial disorders, or they may be more specific, such as in diagnosis of suspected cystic fibrosis. In neonatology genetic testing is often used for the investigation of dysmorphic features, hypotonia, ambiguous genitalia, metabolic and systemic syndromes and other clinical conditions associated with genetic causes.
We diagnose various genetic disorders in children and our expert team will also give guidance for parents in dealing with genetic disorders in children.