Figure 1.

Flow chart demonstrating recruitment to this cohort and methods of genetic testing for ADTKD. Sixteen families have been identified with a total solve rate of 12/16. Individuals with tubulointerstitial kidney disease and a relevant family history identified from the Irish Kidney Gene Project (IKGP) were further screened via review of biopsy reports and clinical records. Five individuals were excluded from this report because they did not meet KDIGO criteria for a definite diagnosis of ADTKD, 3 because they did not have an affected first degree relative (or confirmed mutation) and 2 because they did not have a compatible biopsy report (or confirmed mutation). The Renal Genetics Clinic (RGC) was an additional source of recruitment. *Two families recruited via the RGC went directly to gene panel testing without prior targeted testing for MUC1 and UMOD mutations. †One individual had both gene panel and whole exome sequencing and was found to have a pathogenic mutation in the UMOD gene on both methods.