Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.

ABSTRACT: Understanding the genetic causes of kidney disease is essential for accurate diagnosis and could lead to improved therapeutic strategies and prognosis. To accurately and promptly identify the genetic background of kidney diseases, we applied a targeted next-generation sequencing gene panel including 203 genes associated with kidney disease, as well as diseases originating in other organs with mimicking symptoms of kidney disease, to analyze 51 patients with nonspecific nephrogenic symptoms, followed by validation of its efficacy as a diagnostic tool. We simultaneously screened for copy number variants (CNVs) in each patient to obtain a higher diagnostic yield (molecular diagnostic rate: 39.2%). Notably, one patient suspected of having Bartter syndrome presented with chloride-secreting diar

SUBMITTER: Oh J 

PROVIDER: S-EPMC7839754 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature