Waiting for Whole Exome Sequencing Results

December 3, 2014 12:26 am No Comments 1

We are currently waiting for the whole exome sequencing results in a clinical setting from the Rare and Undiagnosed Program at the Children’s Hospital of Wisconsin. Dr. Howard Jacob and Dr. Gunter Scharer as well as their team are in the process of analyzing the data. We have a meeting set to review the results on January 14, 2015.

We are also working with Dr. Stephen Kingsmore and his team at the Children’s Mercy Hospital in Kansas City, MO. They are sequencing our family of five in the research setting. The whole exome sequencing results will be relayed to Dr. Howard Jacob. We are hoping that between the two teams we will be able to find an answer.

If we do not find an answer, we will push for the whole genome sequencing to be performed on our family.