Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease | Zendy

Parker C. Wilson | Zendy; Latisha LoveGregory | Zendy; Meagan Corliss | Zendy; Samantha N. McNulty | Zendy; Jonathan W. Heusel | Zendy; Joseph P. Gaut | Zendy

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Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease

Author(s) -

Parker C. Wilson,

Latisha LoveGregory,

Meagan Corliss,

Samantha N. McNulty,

Jonathan W. Heusel,

Joseph P. Gaut

Publication year - 2020

Publication title -

kidney360

Language(s) - English

Resource type - Journals

ISSN - 2641-7650

DOI - 10.34067/kid.0001342020

Subject(s) - exome sequencing , medicine , genetic testing , exome , retrospective cohort study , kidney disease , medical genetics , disease , focal segmental glomerulosclerosis , bioinformatics , pathology , genetics , glomerulonephritis , phenotype , biology , gene , kidney

Next-generation sequencing (NGS) is a useful tool for evaluating patients with suspected genetic kidney disease. Clinical practice relies on the use of targeted gene panels that are ordered based on patient presentation. We compare the diagnostic yield of clinical panel-based testing to exome analysis.

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