We have expanded our neurology text menu! Ataxia Xpanded Panel, CMT Panel, Metabolic Myopathy Panel To learn more please click here.
In celebration of having now sequenced the exomes of over 55,000 individuals, GeneDx hosted the Exome Sprint Series. This program consisted of three webinar presentations looking behind the scenes of our XomeDx program and what makes it so unique. Learn more by visiting www.genedx.com/exomesprintseries
GeneDx has updates to the Hereditary Cancer Testing menu! Click the link for more information: Updates to Hereditary Cancer Testing offerings at GeneDx
It was a busy couple of days at the 2016 NSCG AEC in Seattle. We enjoyed seeing all of you and learning together. Thank you for your ongoing support of GeneDx! The results are in for the #GCFeudbyGeneDx! Check out the details here.
Introducing XomeDxPrenatal, an expedited whole exome sequencing (WES) test for ongoing pregnancies with abnormal fetal ultrasound findings. Click here to learn more!
Nearly everything! We are proud to announce updates to nearly our entire cardiology test menu. Click here for more details.
This year at NSGC 2016 in Seattle, WA, GeneDx will be hosting a sponsored lunch session, speaking at a pre-conference symposium presentation and presenting 22 poster presentations. To learn more about all our events, click here.
This year at the ACMG, we presented 16 poster presentations. To read the selected four complete posters, click on the links below. Copy Number Variants in Cardiomyopathy-Associated Genes Daniela Macaya, PhD, FACMG; Rebecca Latimer, MMSc, CGC; Gabriele Richard, MD, FACMG; Shelley Patrick, MS, CGC; Christian Antolik, PhD, FACMG Diagnostic Yield From Reanalysis of Whole Exome Sequencing DataElizabeth Williams, MS, […]
GeneDx has published two studies in Genetics in Medicine. Congratulations to our GeneDx authors! To read more, please click on the links below: Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing Clinical Application of Whole Exome Sequencing Across Clinical Indications
Recently the American College of Medical Genetics published new guidelines for the interpretation of genetic sequence variants (Richards et al. (2015) Genetics in Medicine: Official Journal of the American College Of Medical Genetics: (PMID: 25741868). The process of variant interpretation is dynamic and challenging. The purpose of the guidelines is to standardize the terminology used […]