[Real-world diagnostic performance of the «Allogenomics» predictive score in a cohort of 185 patients with suspected inherited kidney disease].

Nephrogenetics provides an innovative etiological approach to chronic kidney disease (CKD). However, genetic testing remains complex, costly, and generates a large number of data, requiring targeted use. In 2023, Doreille A. et coll. proposed the Allogenomics Score (SAG) predictive for a positive molecular diagnosis, based on age, CKD stage, family history, and nosological category. A SAG below -2.230916 was associated with a negative predictive value (NPV) of 94 %. We test the SAG in a monocentric study (2023-2025), including 185 patients who underwent exome sequencing filtered on a 304-gene panel. Variants were ACMG-classified, and the individual SAG was calculated. Concordance between the a priori clinical hypothesis and the a posteriori molecular diagnosis was assessed using κ Cohen's coefficient. The median SAG was -1.32 (-2.14; -0.35), corresponding to a predicted probability of positive test of 21 %, with an observed diagnostic yield of 28 %. Clinico-molecular concordance was excellent (92.3 %, κ = 0.86). The probability of a positive genetic diagnosis was significantly associated with SAG (p = 0.042), but no significant association was observed with the -2.230916 threshold (which showed NPV of 84 % in our cohort). These findings indicate excellent clinico-molecular concordance but suboptimal performance of the proposed SAG threshold in clinical routine.