Educational Resource Hub

GeneDx offers more than a test. We’re dedicated to advancing the field of genomics—so more patients get answers.

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Case Studies

Case studies: Genomics in action

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

NICU
Rare Disease
Meet Oliver

See how one test delivered answers for Oliver and gave him a clear path forward.†

Epilepsy
Early intervention meant everything

Claire initially began experiencing unexplained seizures at the age of 5 months; her parents also noticed a delay in her development. Ordering GeneDx exome as a first-line test could have meant answers within weeks. Yet ordering stepwise testing meant it instead took almost two years.

NICU
Meet Luca

Luca was experiencing respiratory distress and hypoglycemia at birth. He was immediately transferred to the NICU for monitoring and ongoing care. His outcome would have been vastly different without early rapid genome sequencing.†

Rare Disease
Meet Layla

Layla was born with a bowel obstruction that required two emergency surgeries in her first weeks of life. Considered as a typical short-bowel patient, Layla didn’t respond to treatment as expected. Fortunately, her care team used GeneDx rapid genome sequencing to uncover TTC7A deficiency, a rare condition that affects both the intestines and the immune system. Learn how her treatment drastically changed—helping Layla not just survive, but thrive.

NICU
An ultra-rare condition shared by 142 children

“Getting a diagnosis was like having a direct prayer answered. Although we understood there was an uncharted road before us, we finally had a name, a diagnosis, and a way to conceptualize our experience with our son.”–May, Bodhi’s mother

Ready to bring genetic testing into your practice?

We’re here to support every step.