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

New! Exome Reanalysis

The Molecular Genetics Laboratory at Cincinnati Children’s will reanalyze data generated by our ExomeSeq test at the request of the ordering provider within five years from the date of the original exome case submission. Multiple indications for ExomeSeq reanalysis may be applicable for your patient. See links for details:

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