Retrospective Evaluation of Patients Undergoing KIDneySeq Genetic Testing in the Evaluation of Nephrolithiasis and Nephrocalcinosis

Document Type

Conference Proceeding

Publication Date

5-2024

Publication Title

Journal of Urology

Abstract

INTRODUCTION: AND OBJECTIVE: Recent literature has suggested that up to 15% of all stone disease may have a monogenic cause with the most prevalent condition being cystinuria. KidneySeqTM is a clinically approved comprehensive renal gene panel which tests for over 120 renal diseases, including nephrolithiasis (NL) and nephrocalcinosis (NC). We sought to assess the positive diagnosis rate inpatients who have undergo genetic testing for NL/NC using KidneySeqTM. METHODS: An IRB-approved retrospective review of all patients who underwent KidneySeqTM genetic testing between 10/2015 and 4/2023 was performed. Only patients with a clinical history of NL or NC, as specified in the indication for testing, or who only had the NL/NC sub-panel ordered (available separate from the full test after 10/2017) were eligible for analysis. Basic demographic information and genetic results were reviewed. Descriptive statistics were generated. RESULTS: A total of 44 patients (23 males) with median age 15years (range 21 days-62 years) underwent testing. 17 (39%) reported a family history of stone disease. 26 patients (59%) were reported to have genetic variants, of which 9 had multiple variants (Table 1). 11 (25%) patients had pathogenic or likely pathogenic variants supporting a NL-related genetic diagnosis, of which 5 were also heterozygous carriers of recessive diseases. 15 (34%) patients were found to be heterozygous carriers, of which 11 (25%) were for NL-related conditions. 9/15 carriers had variants of uncertain significance (VUS). Sub-analysis of the 23 patients with a history of NL alone found 11(48%) to have genetic variants, of which 3 had pathogenic or likely pathogenic variants with a supporting genetic diagnosis and 8 were heterozygous carriers. CONCLUSIONS: In our cohort, 25% of patients were considered to have causal variants supporting a genetic diagnosis. The effect of carrier status and VUS in stone risk in an additional 20% remains unclear. Our results confirm that genetic testing has a high yield when clinical suspicion is strong.

Volume

211

Issue

5S

First Page

e747

Comments

American Urological Association Annual Meeting, May 3-6, 2024, San Antonio, TX

DOI

10.1097/01.JU.0001008764.86460.8e.13

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