Understanding Genetic Testing & Sequencing – It’s Greek To Me
January 19, 2008 by Chris Hempel
Filed under Genetics
We have recently learned from the Mayo Clinic that our twins Addi and Cassi have one Niemann Pick Type C gene mutation that has been identified in their bodies — it’s called Exon 12 DNA Change 1920delG. This DNA sequence change (or deletion) is a “known pathogenic mutation in the sterol-sensing domain.” The 1920delG mutation […]