Opinion: Why genetic testing should always be offered to children with neurodevelopmental differences
These tests save families valuable time, helping them get to a diagnosis faster.
At 10 months old, my daughter Gabrielle had missed key milestones for gross motor, fine motor, social and communication skills. Following two seizures, Gabrielle had an MRI that showed brain abnormalities. When I was given the MRI results, I crumpled to the ground.
Over the next year, Gabrielle was diagnosed with epilepsy, global developmental delays, and autism spectrum disorder. While our diagnostic journey may have ended there, my husband and I, both physicians, wondered whether there was something deeper behind Gabrielle’s diagnoses. So we were excited when we were referred to a pediatric geneticist who offered Gabrielle whole exome sequencing, which sequences all of the protein-coding regions of the genome, to determine whether there was a genetic cause.
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