Whole Exome Sequencing


The Molecular Genetics Laboratory at Cincinnati Children's offers ExomeSeq, a clinical whole exome sequencing test for patients with complex phenotypes for which single gene tests or multi-gene panels are not clinically available or cost effective. 

We combine state-of-the-art next-generation sequencing technology, a custom bioinformatics pipeline, and result interpretation by clinical and molecular geneticists to provide high-quality and clinically actionable results. 

Genetic counselors incorporate clinical information to create a customized report for each patient receiving ExomeSeq. 

For Patients and Families

Learn more about the basics of genes and whole exome sequencing. Also, find a list of frequently asked questions

View Exome Symposium

We invite you to take an in-depth look at whole exome sequencing and genomic medicine efforts at Cincinnati Children’s.  We have 13 presentations from our 2013 Exome Symposium available online. Topics include next-gen technology, primary immune deficiencies, genetic counseling, ethics, research potential and complex diseases, and clinical testing.

• View presentations