EP409: Clinical utility of a sponsored, no-charge skeletal dysplasia gene panel testing program: Results from >2600 tests

Abstract

Skeletal dysplasias (SDs), a heterogeneous group comprising over 450 genetic disorders, are typically diagnosed by a combination of prenatal ultrasonography, postnatal physical examination, radiography, clinical history, and/or molecular testing. Some SDs are exceedingly rare and difficult to diagnose. Furthermore, while examination and radiographs may lead to a diagnosis within a class of disorders (such as dysostosis multiplex leading to mucopolysacharridosis (MPS) diagnosis), diagnosing the specific subtype can be especially challenging.