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The etiology is multifactorial, depending on environmental and genetic factors. Although monogenic KSD is frequent in children, unbiased prevalence data of heritable forms in adults is scarce. Within 2\u2009years of recruitment, all patients hospitalized for urological kidney stone intervention at our center were consecutively enrolled for targeted next generation sequencing (tNGS). Additionally, clinical and metabolic assessments were performed for genotype\u2013phenotype analyses. The cohort comprised 155 (66%) males and 81 (34%) females, with a mean age at first stone of 47\u2009years (4\u201386). The diagnostic yield of tNGS was 6.8% (16\/236), with cystinuria (<jats:italic>SLC3A1<\/jats:italic>, <jats:italic>SLC7A9<\/jats:italic>), distal renal tubular acidosis <jats:italic>(SLC4A1<\/jats:italic>), and renal phosphate wasting (<jats:italic>SLC34A1<\/jats:italic>, <jats:italic>SLC9A3R1<\/jats:italic>) as underlying hereditary disorders. While metabolic syndrome traits were associated with late\u2010onset KSD, hereditary KSD was associated with increased disease severity in terms of early\u2010onset, frequent recurrence, mildly impaired kidney function, and common bilateral affection. By employing systematic genetic analysis to a less biased cohort of common adult kidney stone formers, we demonstrate its diagnostic value for establishing the underlying disorder in a distinct proportion. Factors determining pretest probability include age at first stone (&lt;40\u2009years), frequent recurrence, mild CKD, and bilateral KSD.<\/jats:p>","DOI":"10.1002\/ajmg.c.31991","type":"journal-article","created":{"date-parts":[[2022,8,4]],"date-time":"2022-08-04T05:48:55Z","timestamp":1659592135000},"page":"279-288","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Systematic assessment of monogenic etiology in adult\u2010onset kidney stone formers undergoing urological intervention\u2013evidence for genetic pretest probability"],"prefix":"10.1002","volume":"190","author":[{"given":"Ria","family":"Sch\u00f6nauer","sequence":"first","affiliation":[{"name":"Department of Nephrology Charit\u00e9 Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Division of Nephrology University of Leipzig Medical Center  Leipzig 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