GeneDx’s Post

Celebrate Newborn Screening Awareness Month with us! Join Dr. Paul Kruszka and Dr. Wendy Chung for a live conversation moderated by Nicki Berry on the critical role newborn screening plays in early diagnosis and intervention—as well as the latest from #GUARDIAN, the largest study to explore #genome #sequencing in newborns from a diverse population. It all takes place at 1:00 pm Eastern on Thursday, September 26. Register now: https://genedx.co/4dYEo0C

Genome #sequencing analyzes the entirety of an individual’s DNA, which is known as the #genome, including both protein-coding and non-coding regions. This comprehensive view can enable the greatest chance of uncovering a #genetic diagnosis. Learn more: https://genedx.co/3T56qz7

With respiratory distress and hypoglycemia, Luca spent his first days of life in the #NICU. Hospital protocols for rapid #genome #sequencing meant the difference between fast, targeted care and years of unexplained symptoms. See how early rapid genome sequencing made all the difference for Luca: https://genedx.co/4cRXxQH

We believe that everyone deserves personalized, targeted medical care—and that it all begins with a #genetic diagnosis. Discover why at https://genedx.co/3AQBj4h

Which of your patients could benefit from an earlier #genetic diagnosis? Research shows that #exome finds answers that other tests can miss. Follow guidelines. Start with exome. Shorten the time to a diagnosis. https://genedx.co/3Y7ECxt

Are you still ordering multi-gene panels? #Exome offers ~30% fewer uncertain results—and more definitive answers for your #patients. Exome is for so much more than your hardest cases. Because everyone deserves the best care possible. Learn more at https://genedx.co/3Y7ECxt

📣 Now available: Cheek swab (buccal) sample collection for #genome orders. One more way GeneDx is increasing access to comprehensive #genetic #sequencing. See how genome sequencing makes a difference in patient care: https://genedx.co/3T56qz7

We're so honored to help families like Tiem and Liz finally find answers. Thanks to the results of his GeneDx exome test, Tiem was diagnosed with ADNP syndrome, providing a roadmap for his care.

The data is clear: Exome sequencing is more powerful than CMA. Not only is #exome more likely to lead to a diagnosis, it can also identify many of the changes found via CMA. That's why it's recommended as a first-line test for individuals with unexplained #epilepsy. Find more answers. Explore the power of exome at https://genedx.co/4eCqked

Our Chief Medical Officer, Dr. Paul Kruszka, recently appeared on the Becker's Healthcare Pediatric Leadership podcast to discuss the increasing role of advanced genetic testing in accelerating diagnosis of rare and common diseases in children, and what's needed to increase access to these tests for more providers and families. Listen below! https://lnkd.in/eYy8SQ2v