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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).
The Molecular Genetics Laboratory at Cincinnati Children's offers diagnostic testing for these individual genes, or in cases of clinical overlap, the innovative Jaundice Chip resequencing assay, the first chip of its kind, which provides rapid and cost effective analysis of all five genes.
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.
View a list of all tests offered by the Hereditary Liver Diseases Genetic Testing service. You can also download our test requisition.
Download a testing algorithm for the clinical finding of neonatal cholestatic jaundice. The algorithm is available in portable document format (.pdf).
The Molecular Genetics Laboratory combines state-of-the-art testing with comprehensive interpretation of test results by experts. Learn more about our accurate, timely and competitively priced tests.
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