Genetics and Genomics Diagnostic Laboratory

Molecular Genetics Laboratory | 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, 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: Arabic, English, Spanish