EP511: Improved insurance coverage of exome sequencing in an outpatient medical genetics clinic increases in diagnoses and positively impacts clinical management

Abstract

Exome sequencing (ES) is a cost-effective and powerful tool to diagnose patients suspected to have a Mendelian disorder. ES is also recognized to impact care and can inform prognosis, options for treatment and surveillance, recurrence risks, condition-specific support, and opportunities for research in patients both receiving a diagnosis and those with negative test results.