Hereditary Liver Diseases Genetic Testing

Liver Panels by NGS

• Cholestasis Panel (ABCB4, ABCB11, ABCC2, AKR1D1, ATP8B1, BAAT, CLDN1, CYP7B1, EPHX1, HSD3B7, JAG1, NOTCH2, SLC25A13, SERPINA1, SLC10A1, TJP2, VIPAS39, VPS33B)
• Jaundice Panel (ABCB4, ABCB11, ATP8B1, JAG1, TJP2)
• Bile Acid Defects Panel (AKR1D1, CYP7B1, HSD3B7)
• Cystic Disease of the Liver/Kidney Panel (PKHD1, PRKCSH)
• Gilbert/Crigler Najjar Syndrome (UGT1A1)
• Wilson Disease (ATP7B)

Single Gene Sequencing

• ABCB4
• ABCB11
• ATP8B1
• BAAT
• JAG1
• SERPINA1
• SEPINA1 genotype assay (Alpha-1-antitrypsin)
• TJP2
• Family specific mutation analysis for any of the above listed genes

Note: Single gene sequencing is available for all genes in the Liver Panels. Please see Custom Gene Sequencing for any gene that is not specified above.