Our casuistry of array CGH since 2019

In our laboratory routine, for array CGH analysis, the majority of the requests are from children with intellectual disability (ID), autism spectrum disorders (ASD), multiple congenital anomalies (MCA) and developmental delay (DD). Array CGH allows the detection of submicroscopic imbalances (copy number variants –CNVs) including size and gene content. CNVs are known risk factors for neurodevelopmental disorders, by their effects of loss, gain or disruption of genes involved in neurodevelopment. In the literature, array CGH diagnostics yields in these cases varies from 8% to 20%1-5. We reviewed our data from 2019 to present, showing the rate of pathogenic CNVs detected.