Figure 1.

Expanding the gene panel increases sensitivity for detection of a clinically-significant variant. Clinical next-generation sequencing (NGS) for renal disorders: physician-ordered, panel-based clinical testing for suspected genetic kidney disease was performed on 324 consecutive patients for the following indications: (1) atypical hemolytic uremic syndrome (aHUS), thrombotic microangiopathy, and C3 glomerulopathy; (2) nephrotic syndrome and FSGS; (3) nephronophthisis and cystic kidney disease; (4) Alport syndrome; and (5) other. Clinical reports were generated for the initial gene panel and submitted to the patient medical record. Retrospective exome analysis identified additional clinically significant pathogenic and likely pathogenic variants defined by American College of Medical Genetics and Genomics criteria. P, pathogenic; LP, likely pathogenic; VUS, variants of uncertain significance. *Risk, homozygous deletion of CFHR3-CFHR1 are displayed as gene (assignment: number of patients) with “/” representing the presence of multiple variants (20).