Genetics and Genomics Diagnostic Laboratory

Molecular Genetics Laboratory | Whole Exome Sequencing

Whole Exome Sequencing by the Molecular Genetics Laboratory

ExomeSeq.

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, advanced bioinformatics, 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. 

Introducing: Prenatal ExomeSeq Testing

The Genetics and Genomics Diagnostic Laboratory at Cincinnati Children's now offers rapid clinical exome sequencing services for pregnancies where the fetuses have structural anomalies, and a genetic cause is suspected. The Prenatal ExomeSeq provides preliminary results (verbal or written) within 15 days for a provider-defined list of genes (up to 15 genes without Sanger confirmations). Final report delivered with full exome sequencing analysis and Sanger confirmation in 30 days.
Prenatal ExomeSeq Test Information  |  Test Requisition   |  Prenatal ExomeSeq Consent Form: English, Spanish, Arabic

For Patients and Families

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

For Healthcare Professionals

Is whole exome sequencing right for your patient? Learn about indications, what is and isn’t reported and other details.

Order Whole Exome Sequencing (WES)

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: