Case studies: Genomics in action

Read case studies based on real GeneDx patients to see how comprehensive genomic testing can improve patient care.

Meet Claire Photo

Meet Claire

At 6 months old, Claire presented with developmental delay and seizures.

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Meet Oliver Photo

Meet Oliver

Oliver was diagnosed with autism and expressive language delay.

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Meet Anne Photo

Meet Anne

Anne was born with colonic atresia, a congenital anomaly requiring immediate surgical repair.

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Meet Luca Photo

Meet Luca

With respiratory distress and hypoglycemia, Luca was transferred to the NICU immediately after birth.

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Meet William Photo

Meet William

William experienced motor and speech delays, muscle stiffness, and behaviors consistent with autism.

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These case studies are based on real GeneDx patients, with all identifying information removed.