We offer exome sequencing to find a molecular diagnosis in
families with children who have had an extensive negative work-up
for a genetic disease. We also use exome sequencing to identify
novel disease genes.
The Sequencing Process
Exome sequencing involves decoding the coding regions of all
23,000 genes in the genome and is offered on a research basis.
Disease-causing variants can be confirmed in our clinical
laboratory. The candidates for exome sequencing are similar to
those for TaGSCAN. Typically, exome sequencing is performed on an
affected child and both parents or two affected children and at
least one parent.