Clinical utility of panel-based genetic sequencing for von Willebrand disease.

ABSTRACT:

Background

von Willebrand disease (VWD) is the most prevalent inherited bleeding disorder with a wide spectrum of causative variants. Next-generation sequencing analyzes the entire VWF gene and provides concomitant assessment of other genes, allowing differentiation between genocopies.

Objectives

We aimed to assess the clinical impact of panel-based sequencing in all VWD patients sequenced at UZ Leuven.

Methods

We conducted a single-center retrospective study of all patients with confirmed or suspected VWD who were screened with panel-based whole-exome sequencing. Presequencing diagnosis was performed using laboratory measures of VWF activity and quantity. Postsequencing diagnosis was informed by variant curation in combination with laboratory measures. We meas

SUBMITTER: Ramanan R 

PROVIDER: S-EPMC12002656 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature