Article
Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.
Journal of thrombosis and haemostasis : JTH - 1 Mar 2025
Suchon Pierre, Soukarieh Omar, Bernard Clara, Mariotti Antoine, Ernest Vincent, Barthet Marie-Christine, Saut Noémie, Theron Alexandre, Biron-Andréani Christine, Daniel Mélanie Y, Catella Judith, Rohrlich Pierre-Simon, Blanc-Jouvan Florence, Le Cam Duchez Véronique, Dari Loubna, Trégouët David-Alexandre, Morange Pierre-Emmanuel
Abstract excerpt
BACKGROUND: Although heritability of venous thromboembolism (VTE) is high, the thrombophilia screening appears to be positive only in a minority of VTE patients. Adding rare variants screening to identify VTE missing heritability still requires further assessment. OBJECTIVES: We report the results of a panel strategy after 3 years of application. METHODS: We performed the sequencing of 28 genes related to...
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