![]() The majority of cases belong to the rare diseases and, frequently, there is a delay in establishing a diagnosis, which relies on typical clinical phenotypes supported by conventional laboratory or radiological analysis. We also illustrate the challenge of dealing with genetic variants and highlight arising clinical questions, especially in patients with atypical phenotypes.Ĭhildren presenting with liver disease often have an underlying genetically determined disorder. Our multi-gene panel is a fast and comprehensive tool to diagnose inherited pediatric hepatopathies. Only 2 of these patients showed characteristic phenotypes conclusive with the detected variants, whereas 11 patients showed unspecific or atypical phenotypes. In another 13 out of 135 cases, we detected variants of unknown significance (VUS) in 9 different genes. Nine patients showed only few or atypical clinical symptoms or presented with additional signs. A total of 14 of these patients presented with the characteristic phenotype of the related hepatopathy. In 23 of these patients, we detected pathogenic or likely pathogenic variants in 10 different genes. We investigated 135 children with suspected inherited hepatopathies, where initially no causative pathogenic variant had been identified, with an amplicon-based NGS panel of 21 genes associated with acute and chronic hepatopathies. ![]() ![]() We describe our single-center experience with NGS diagnostics in standard clinical scenarios in pediatric hepatology. Next-generation sequencing (NGS) has opened up novel diagnostic opportunities for children with unidentified, but suspected inherited diseases. ![]()
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