The Use of CSA®, Clinical Sequence Analyzer™, to Explore Genomic Data in Rare Diseases

01 Aug 2017, 12:00:00 Eastern Time (ET)

Hear the journey of a six year old male with dysmorphic features, developmental delays, and speech regression from initial presentation to final diagnosis. After multiple unrevealing genetic tests, Whole Exome Sequencing (WES) was done and interpreted by Genuity Science® (formerly known as WuXi NextCODE) using CSA®, our Clinical Sequence Analyzer™. The final diagnosis was uncovered in a few minutes and the report generation was done for future family counseling.