https://blog.ambrygen.com/list/tag/Rare%20Disease Find the latest Ambry Genetics news by tag: Rare Disease en https://blog.ambrygen.com/list/tag/Rare%20Disease https://blog.ambrygen.com/assets/img/logo/Ambry_logo_web.jpg https://blog.ambrygen.com/ambry/post/426/joeys-story-a-mothers-reflection-for-rare-disease-month A rare disease mother shares her son's story of TBC1D24 disorder, a condition so rare that most families don’t hear its name until it becomes their world. Wed, 25 Feb 26 06:03:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/425/navigating-the-unknown-a-story-of-resilience-hope-and-advocacy-in-rare-disease A rare disease mother talks about Cornelia de Lange Syndrome (CdLS), a rare genetic disorder characterized by distinctive facial features, growth delays, intellectual disability, and limb abnormalities. Wed, 18 Feb 26 06:04:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/372/from-odyssey-to-answers-how-progeny-helps-improve-rare-disease-care For Rare Disease Day, genetic counselor Liam Riddle explores genetic testing solutions. Fri, 28 Feb 25 05:56:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/373/three-benefits-of-ordering-exome-testing-as-trios Several studies have shown that running an exome “trio” with both biological parents increases the diagnostic yield and decreases the rates of variants of uncertain findings. Wed, 19 Feb 25 06:02:00 -0800 Ambry Genetics Ambry Blog