Unconventional Diagnosis Based on Somatic Findings through Germ Line Whole-Exome Sequencing

Molecular diagnostics is now firmly entrenched in laboratory medicine and the January 2020 issue of Clinical Chemistry is devoted to this topic.  In that issue is a case report that presents an unconventional diagnosis based somatic findings through germline whole-exome sequencing.  Joining us in this podcast is the lead author of that case report, Dr. Jaime Lopes, who is currently a fellow at the Genomics Laboratory in the Department of Laboratory Medicine and Pathology at the Mayo Clinic in Rochester, Minnesota.