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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.
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
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