Ending Sophia’s 10-Year Diagnostic Odyssey

21 July 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_c...

 

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...

 

View Illumina webinars https://www.youtube.com/playlist?list...

 

View Illumina product videos https://www.youtube.com/playlist?list...

 

View Illumina support videos https://www.youtube.com/playlist?list...

 

Share this article on