After years of evaluations and inconclusive testing for disproportionate short stature, GeneDx exome sequencing provided Mateo with a conclusive diagnosis of NPR2-related acromesomelic dysplasia—helping end a nearly three-year diagnostic journey.

After multiple hospitalizations, specialist visits, and normal test results, exome sequencing identified a pathogenic GLI2 variant associated with Culler-Jones syndrome, providing an explanation for Zoe’s short stature, developmental delays, and other clinical features and helping inform her ongoing care.

Trio testing can provide critical inheritance information that changes how variants are classified, enabling faster diagnoses, access to disease specific management, targeted therapies, research opportunities, and support resources.

Harper's developmental delays had no clear cause until trio exome sequencing identified a likely pathogenic variant, leading to a diagnosis of Noonan syndrome and more informed clinical care.

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"Getting those testing results changed our lives in ways we’ll never know" —Rosie's mother

Jennifer’s pregnancy had been progressing normally, with early serum screening and anatomy ultrasound results within expected range. At her fetal anatomy ultrasound, new findings emerged: Fetal hydrops and bilateral clubfoot. She was referred to a Maternal Fetal Medicine (MFM) specialist to evaluate these findings and discuss next steps.