Comprehensive Genetic Testing for the Diagnosis of Heritable Liver Diseases
The Cincinnati Children’s Genetics and Genomics Diagnostic Laboratory, in conjunction with the Division of Gastroenterology, offers Liver Panels by Next-Generation Sequencing (NGS).
The Heritable Liver Disease Genetic Testing program at Cincinnati Children’s originated with the development of the revolutionary JaundiceChip resequencing array. Our program broadened its scope with the advent of our Liver Panels by Next-Generation Sequencing (NGS). The Liver Panels will meet your patients' specialized needs by offering a comprehensive genetic test menu for the diagnosis of an expansive range of heritable liver diseases.
The Liver Panels are comprised of clinically relevant genes related to heritable liver diseases. We have created custom assays to correlate with your patients' unique clinical symptoms. The Liver Panels include the following genetic test options:
- Liver Disease Panel (72 genes)
- Jaundice Panel (5 genes)
- Cystic Diseases of the Liver/Kidney Panel (9 genes)
- Bile Acid Defects Panel (5 genes)
Download: Liver Panels test spec sheet | Heritable Liver Disease test requisition
The Liver Panels use SureSelect Target Enrichment technology followed by next-generation sequencing to provide increased test sensitivity in a comprehensive and cost effective manner. Our team of pediatric gastroenterologists and molecular geneticists will review and interpret each customized analysis, giving you access to unparalleled clinical expertise.
The Genetics and Genomics Diagnostic Laboratory at Cincinnati Children's also offers single gene analysis for any gene on a panel, targeted variant analysis, and deletion / duplication analysis for several of the genes included in the Liver Panels. See a comprehensive list of tests offered.
Why Choose Us?
Our lab will give you access to unparalleled clinical expertise. We provide guidance in:
- Clinical interpretation, recommendation for follow-up testing and medical management
- Genetic counseling
- Coordination of studies for at-risk family members
