08/31/2026
Sometimes finding the answer means looking beyond the initial result.
After a skeletal dysplasia panel identified one pathogenic variant and one variant of uncertain significance (VUS), Mateo's family was still left without a definitive diagnosis.
Exome testing through GeneDx classified the VUS as likely pathogenic, providing a conclusive diagnosis of NPR2-related acromesomelic dysplasia and ending years of uncertainty.
Read Mateo's story and see how variant data within the GeneDx Infinity database can help unlock answers for more families.
https://genedx.co/4cELQPW