Our Rare Disorders Program is excited to announce multiple new testing options, including several syndrome-specific panels for immunology, pulmonology, skeletal and many others! We have also updated our existing panels to include new clinically relevant genes. Check out the Rare Disorders page or ask your local GeneDx representative to learn more!
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To learn more about our Buccal Swab Collection kits, including detailed instructions, please view our Buccal Swab Collection Kit tutorial videos: Buccal Swab – Sample Collection Tutorial Video
We have new and updated tests in Neurology including several new testing options for Neurodevelopmental and Neuromuscular disorder as well as updates to gene lists for existing tests. Check out our comprehensive multi-gene panels that were updated to include newly discovered genes and those with recently expanded phenotypic spectrums. SMA testing is now available!
Wednesday July 4, 2018 GeneDx will be closed for the Independence Day holiday. The laboratory will not be open to receive or accession samples. If you require assistance, Customer Service is available at (888) 729-1206 or firstname.lastname@example.org
We hope you had a wonderful 2017. For us, 2017 was a year in which we were able to provide more comprehensive testing options and contribute to numerous scientific publications. Click here to learn more about the collaborations and activities that allowed us to bring quality care to patients. We wish you a very happy […]
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 […]