At Cincinnati Children's Hospital Medical Center, we have a team of practicing, board-certified pediatric gastroenterologists and molecular geneticists to review and interpret each test result.
About Heritable Liver Diseases Genetic Testing | Why Choose Us?
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). The Molecular Genetics Laboratory at Cincinnati Children's Hospital Medical Center offers diagnostic testing for these individual genes, or in cases of clinical overlap, the innovative JaundiceChip resequencing assay, the first chip of its kind, which provides rapid and cost effective analysis of all five genes. Learn more about how genetic testing can benefit your patients.
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The Molecular Genetics Laboratory at Cincinnati Children’s uses state-of-the-art genetic testing to provide clinically relevant laboratory results. The laboratory is certified by CAP and CLIA.
At Cincinnati Children's, 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. Discover how the experts at Cincinnati Children's can help you and your patients.
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