• Genetic Testing for Heritable Liver Diseases

    Customized Interpretation of Test Results for Your Patients

    Genetic Testing for Heritable Liver Diseases.At Cincinnati Children's, we have a team of practicing, board-certified pediatric gastroenterologists and molecular geneticists to review and interpret each test result.

    Inherited intrahepatic cholestasis is a heterogeneous group of disorders typically presenting as neonatal jaundice and leading to persistent liver dysfunction in children and adults. Some types of cholestasis present with a clear pattern of extrahepatic symptoms and laboratory and pathologic findings, but there remains considerable clinical overlap.

    Five genes represent the most common heritable causes of cholestatic liver disease in young children: JAG1 (Alagille syndrome), ATP8B1 (PFIC1), ABCB11 (PFIC2), ABCB4 (PFIC3) and SERPINA1 (alpha-1-antitrypsin deficiency).

    Molecular Genetics Laboratory at Cincinnati Children's offered diagnostic testing for these individual genes, or in cases of clinical overlap, the innovative JaundiceChip resequencing assay. Now we are pleased to announce the arrival of the new JaundiceChip by next-generation sequencing (NGS)!

    The JaundiceChip by NGS uses TruSeq Custom Amplicon enrichment technology followed by next-generation sequencing to provide increased test sensitivity while maintaining the same rapid, comprehensive, and cost effective analysis you have come to expect.

    Coming soon: The Evolution of the JaundiceChip

    The Liver Chip by next-generation sequencing offers a comprehensive test menu for the diagnosis of an expansive range of heritable liver diseases. The Liver Disease Testing Program will be comprised of six unique assays that are performed using TruSeq Custom Amplicon enrichment technology followed by next-generation sequencing (NGS). Our team of pediatric gastroenterologists and molecular geneticists will review and interpret each customized analysis, giving you access to unparalleled clinical expertise.

    Why Choose Us?

    The Molecular Genetics Laboratory uses state-of-the-art genetic testing to provide clinically relevant laboratory results. The laboratory is certified by CAP and CLIA.

    We believe that a clinical perspective is crucial to the interpretation of genetic test results. That's why we have a team of practicing, board-certified pediatric gastroenterologists and molecular geneticists to review and interpret each test result for the physician audience and make specific recommendations for your patients.


  • Tests & Requisition Form

    View a list of all tests offered by the Hereditary Liver Diseases Genetic Testing service. You can also download our test requisition.

    Tests Offered
  • Related Area

    The Division of Gastroenterology, Hepatology and Nutrition at Cincinnati Children’s is a national and international referral destination.

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  • Molecular Genetics Lab

    The Molecular Genetics Laboratory combines state-of-the-art, competitively priced testing with comprehensive interpretation of test results by experts.

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