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.