Happy holidays! Please be advised that in-transit patient samples will be held by the carrier on Dec. 25 and received by our lab the next day. Kit orders placed on Dec. 25 will be sent on Dec. 26. Our genetic counseling services, client services, and billing services will be unavailable Dec. 24-25; please leave us a message at 888-729-1206 or support@genedx.com and we will respond when we return.
GeneDx’s experience with GeneMatcher highlights our commitment to data sharing, collaborating with our ordering clinicians, and our commitment to helping patients and their families. As a result of GeneMatcher utilization, GeneDx has been involved in the publication of over 200 articles involving novel disease-gene relationships and expanded phenotypes for known disease-causing genes.
Among patients with cerebral palsy who underwent exome sequencing, the prevalence of pathogenic and likely pathogenic variants was 32.7% in a cohort that predominantly consisted of pediatric patients and 10.5% in a cohort that predominantly consisted of adult patients.
Trio exome sequencing (ES) presents a comprehensive method for detection of UPD alongside sequence and copy-number variant analysis.
With the goal of identifying novel genes associated with developmental disorder, this study leveraged over 30,000 parent-offspring exome trios to identify gene-specific enrichments of de novo variants.
Report of the overall diagnostic yield of GeneDx’s first 3,040 exome cases (28.8%). This study identified that analysis of trios significantly improves diagnostic yield compared to proband-only testing for genetically heterogeneous disorders.
