Article
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Blood - 9 Jun 2016
Simeoni Ilenia, Stephens Jonathan C, Hu Fengyuan, Deevi Sri V V, Megy Karyn, Bariana Tadbir K, Lentaigne Claire, Schulman Sol, Sivapalaratnam Suthesh, Vries Minka J A, Westbury Sarah K, Greene Daniel, Papadia Sofia, Alessi Marie-Christine, Attwood Antony P, Ballmaier Matthias, Baynam Gareth, Bermejo Emilse, Bertoli Marta, Bray Paul F, Bury Loredana, Cattaneo Marco, Collins Peter, Daugherty Louise C, Favier Rémi, French Deborah L, Furie Bruce, Gattens Michael, Germeshausen Manuela, Ghevaert Cedric, Goodeve Anne C, Guerrero Jose A, Hampshire Daniel J, Hart Daniel P, Heemskerk Johan W M, Henskens Yvonne M C, Hill Marian, Hogg Nancy, Jolley Jennifer D, Kahr Walter H, Kelly Anne M, Kerr Ron, Kostadima Myrto, Kunishima Shinji, Lambert Michele P, Liesner Ri, López José A, Mapeta Rutendo P, Mathias Mary, Millar Carolyn M, Nathwani Amit, Neerman-Arbez Marguerite, Nurden Alan T, Nurden Paquita, Othman Maha, Peerlinck Kathelijne, Perry David J, Poudel Pawan, Reitsma Pieter, Rondina Matthew T, Smethurst Peter A, Stevenson William, Szkotak Artur, Tuna Salih, van Geet Christel, Whitehorn Deborah, Wilcox David A, Zhang Bin, Revel-Vilk Shoshana, Gresele Paolo, Bellissimo Daniel B, Penkett Christopher J, Laffan Michael A, Mumford Andrew D, Rendon Augusto, Gomez Keith, Freson Kathleen, Ouwehand Willem H, Turro Ernest
Abstract excerpt
Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia and von Willebrand disease patients, a molecular analysis for patients with a BPD is often unavailable. Many specialized tests are usually required to reach a putative diagnosis and they are typically performed in a step-wise manner to control costs. This...
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