Ending Sophia’s 10-Year Diagnostic Odyssey

July 21, 2020

After seven years, dozens of specialists, dozens of genetic tests and MRIs, Sophia and her family were exhausted and without a diagnosis. They needed two years to recharge before re-engaging to end their diagnostic odyssey. During this time WGS became available and enabled Sophia’s medical team to identify a WDR45 variant and diagnose Sophia with Beta-propeller protein-associated neurodegeneration (BPAN). Subscribe to the Illumina video channel http://www.youtube.com/subscription_center?add_user=IlluminaInc A global genomics leader, Illumina provides comprehensive next-generation sequencing solutions to the research, clinical, and applied markets. Illumina technology is responsible for generating more than 90% of the world’s sequencing data.* Through collaborative innovation, Illumina is fueling groundbreaking advancements in oncology, reproductive health, genetic disease, microbiology, agriculture, forensic science, and beyond. *Data calculations on file. Illumina, Inc., 2015. View customer spotlight videos https://www.youtube.com/playlist?list=PLKRu7cmBQlajfheLzgbI4S7xBn7IDbt79 View Illumina webinars https://www.youtube.com/playlist?list=PLKRu7cmBQlahpXlnrrXlQw9itVJ8yHwUZ View Illumina product videos https://www.youtube.com/playlist?list=PLKRu7cmBQlaj6YuZmkfxZcT9twqDgP2Xd View Illumina support videos https://www.youtube.com/playlist?list=PLKRu7cmBQlajbm2KGsICWb-JOnusJfYvM

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