A novel assay based on Oxford Nanopore technology for potential mass screening of Klinefelter syndrome

Abstract

Klinefelter syndrome (KS) is the most common and most underdiagnosed sex chromosomal abnormality, with a prevalence of 1 in 500 male births, leading to a variety of clinical features including infertility. Multiple studies demonstrate that if treated in a timely manner (e.g. with hormonal therapy and early fertility management) boys affected with KS can have a normal life, with a 25% chance to achieve fertility. The key element in successful treatment of KS is a timely identification. Here, we present research demonstrating a cost-effective, end-to-end assay with potential future utility for postnatal detection of KS based on Oxford Nanopore technology. The research suggests the technology could be applied for detection of any other genetic disorder.