On March 2, 2016 OPKO Health, Inc. reported that its GeneDx subsidiary and business unit has been selected to give 11 platform talks and 18 poster presentations on a range of genetics-related topics at the 2016 American College of Medical Genetics and Genomics (ACMG) Annual Meeting (Press release, Opko Health, MAR 2, 2016, View Source [SID:1234509330]). These presentations support GeneDx’s position as an industry leader in the wider genomics industry.
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Marc Grodman MD, CEO of BioReference/GeneDX states, "We are honored to have such a large number of presentations accepted at this year’s ACMG meeting and believe the depth and scope of our contributions demonstrate not only our commitment in expanding the scope of our genomic testing but also a meaningful contribution to enrich the scientific community at large."
This year’s presentations cover a range of topics ranging from inherited cancer testing to whole exome sequencing. Some of GeneDx’s featured presentations at the meeting include:
GeneDx’s experience from the first 100 XomeDxXpress cases performed for patients in critical care including diagnostic yield and how the results impacted medical management;
The potential use of Whole Exome Sequencing for fetal anomalies and fetal demise;
The detection of mosaic variants in genes causing germline neurodevelopmental disorders, such as epilepsy;
Multiple talks describing genes that have recently been associated with neurodevelopmental delay, either as a new gene-disease association or as an expansion of a previously described clinical phenotype.
For a complete list of GeneDx’s platform presentations and posters, please visit the GeneDx website View Source or stop by and visit booth #413 at the 2016 ACMG conference to learn more.
Over the last several years, GeneDx has been striving to better understand the genetic causes of autism and intellectual disability through research and its robust Whole Exome Sequencing program, perhaps best demonstrated by several of the company’s presentations at this year’s ACMG annual meeting. Based on this increased understanding and knowledge, GeneDx is proud to announce the launch of its Autism/Intellectual Disability (ID) Xpanded Panel. This is a dynamic testing panel analyzing approximately 2,000 genes that have been associated with autism, intellectual disability and/or developmental delay.