Genetic Testing for Heritable Liver Diseases
Customized Interpretation of Test Results for Your Patients
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 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 Jaundice Chip resequencing assay , the first chip of its kind, which provides rapid and cost effective analysis of all five genes.
Why Choose Us?
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.
