Genetic testing validates clinical diagnosis and aids in tailoring management strategies hence, a more precise treatment plan is developed and unnecessary investigations are avoided, which is crucial in the case of children during routine nephrology clinic visits. The spectrum of kidney diseases included nephrolithiasis/nephrocalcinosis, glomerular diseases, cystic kidney disease, ciliopathies, tubulopathies, chronic kidney disease, and congenital anomalies of the kidneys and urinary tracts (CAKUT), while hematuria and proteinuria were reported by two studies and autosomal recessive and autosomal dominant idiopathic kidney disease was reported by only one study. The diagnostic yield for the included studies ranged from 78.10% to 16.8%. The pooled result for the diagnostic yield as per the common effect model is a pooled proportion of 0.42 (42%) 95% confidence interval (CI):, while with the random effects model the pooled proportion is 0.43 (43%) 95% CI. The pooled diagnostic yields were calculated using the common effect and random effect models utilizing the R program (R Foundation for Statistical Computing, Vienna, Austria). Quality assessment for all included studies was performed.

Case reports with limited sample sizes and no descriptive statistics, along with review papers and meta-analyses, were excluded from this review. Studies from the years 2013-2023 were included. We have conducted both electronic and manual searches within PubMed, the Cochrane Library, Web of Science, and Scopus to find relevant studies. In the present review, we aim to collect all potential evidence from relevant studies that reported the role of genetic testing in pediatric renal disease diagnostic, prognostic, and social implications. Presently, genetic testing is being incorporated into the standard of care for children and their families with kidney disease, primarily as a diagnostic tool.

Pediatric renal diseases vary widely and are linked to high morbidity and mortality hence, early diagnosis is vital.

Prognostic testing