Diagnosing neurodevelopmental disorders in the data-rich postgenomic era

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Diagnosing neurodevelopmental disorders in the data-rich postgenomic era

owl

Guest contributor

Mum with Down syndrome child
Trisomy 21 (Down syndrome) is the most common cause of intellectual disability

GENETIC MEDICINE

In recent years, there has been an exponential increase in the rate of definitive diagnosis of neurodevelopmental disorders in children. This article highlights the relatively new technology enabling this increase – a thorough genomic test that is not without its challenges

Key points, Next-generation sequencing has revolutionised the diagnosis of neurodevelopmental disorders which can then provide accurate information for guiding me