ArticleResearch and practice in thrombosis and haemostasis2026
Multigene panel analysis of connective tissue and vascular genes in patients with a bleeding disorder of unknown cause or a cerebrovascular event.
Article in Research and practice in thrombosis and haemostasis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Bleeding disorder of unknown cause (BDUC) refers to patients with a significant bleeding phenotype despite normal hemostatic evaluation. Cerebrovascular events (CVEs) are neurologic deficits from intracerebral hemorrhages to hemorrhagic or ischemic strokes. A multigene panel for inherited connective tissue and vascular disorders (BLEED_panel) may improve diagnostic assessment. Objectives: This study aimed to evaluate the diagnostic yield and clinical value of the BLEED_panel in patients with BDUC or CVE and to characterize their bleeding manifestations. Methods: In this retrospective single-center study, all patients tested with the BLEED_panel between January 2019 and August 2025 were included. Demographics, bleeding phenotype, family history, and genetic results were extracted. Variants were classified using American College of Medical Genetics and Genomics criteria. Descriptive statistics assessed the diagnostic yield and genotype-phenotype correlations. Results: In the BDUC cohort ( Conclusion: The BLEED_panel adds no diagnostic value in patients with BDUC. It may be useful in selected CVE cases, particularly for
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