• Tests Offered

    The Heritable Liver Diseases Genetic Testing Service in the Molecular Genetics Laboratory at Cincinnati Children's offers several options for genetic testing of patients with neonatal cholestasis. Download the Hereditary Liver Disease test requisition form .

    Tests Offered

    • Jaundice Chip resequencing array (JAG1 ,ATP8B1 ,ABCB11 ,ABCB4 , andSERPINA1 )
    • JAG1 (Alagille syndrome) full sequence analysis
    • ATP8B1 (PFIC1, FIC1 deficiency) full sequence analysis
    • ABCB11 (PFIC2, BSEP deficiency) full sequence analysis
    • ABCB4 (PFIC3, MDR3 deficiency) full sequence analysis
    • SERPINA1 (alpha-1-antitrypsin deficiency) full sequence analysis
    • SERPINA1 genotype assay for PI*Z and S alleles
    • TJP2 (PFIC4, TJP2 deficiency) full sequence analysis
    • BAAT (familial hypercholanemia) full sequence analysis
    • Family specific mutation analysis for any of the above listed genes

    Each test result includes a detailed interpretation of the genetic findings, the clinical significance of the result and specific recommendations for clinical management and additional testing, if warranted.

  • Test Requisition Form

    Download our Hereditary Liver Disease Test Requisition Form in portable document format (.pdf).
  • Search for a test.

    Search all tests offered by the Clinical Laboratories at Cincinnati Children's.