Liver and pancreatic diseases
Hereditary liver and pancreatic diseases encompass a range of genetic disorders that impair the function of the liver and pancreas. These conditions can lead to severe functional impairments, such as cholestasis, characterized by impaired bile flow, and pancreatitis, an inflammatory disease of the pancreas.
Request Test
- Sample material: EDTA whole blood
- Testing method: Next-Generation Sequencing (NGS)
- Turnaround time: from 2 weeks
- Required documents:
Detailed information on sample submission can be found here.
DIAGNOSTIC SERVICES
The following table presents our indication-specific range of examinations in this field:
| INDICATION | ANALYSIS |
| Cholestasis | Gene panel |
| Pancreatitis | Gene panel |
| Polycystic liver disease (PCLD) | Gene panel |
| Progressive familial intrahepatic cholestasis | Gene panel |
The genes examined in the respective gene panels are always based on the current versions of the Genomics England PanelApp, the PanelApp Australia, the OMIM Phenotypic Series, and the entries from GeneReviews.
If the suspected diagnosis or indication is not listed here, or if it involves a complex syndromic clinical picture, it is possible to request exome sequencing based on phenotypic characteristics.