The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.

ABSTRACT:

Introduction

Genetic testing can reveal monogenic causes of kidney diseases, offering diagnostic, therapeutic, and prognostic benefits. Although single nucleotide variants (SNVs) and copy number variants (CNVs) can result in kidney disease, CNV analysis is not always included in genetic testing.

Methods

We investigated the diagnostic value of CNV analysis in 2432 patients with kidney disease genetically tested at the University Medical Centre Utrecht between 2014 and May 2022. We combined previous diagnostic testing results, encompassing SNVs and CNVs, with newly acquired results based on retrospective CNV analysis. The reported yield considers both the American College of Medical Genetics and Genomics (ACMG) classification and whether the genotype actually results in diseas

SUBMITTER: Claus LR 

PROVIDER: S-EPMC11403095 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature