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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†.

Rare Disease Diagnostics
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

Rare Disease Diagnostics
More than cerebral palsy

“There was an ounce of relief in [getting the diagnosis], because we had been waiting for answers and now we had them. We now had some sort of direction, too.” — Emily, Savannah's mother

Epilepsy
Meet Ben

“I would never wish those seven years ​I spent searching for a diagnosis on anyone. The sense of relief I finally got from finally getting a diagnosis was overwhelming. ​We found hope and a path forward.” —Ashley, Ben's mother

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