VWF PHENOTYPING AND MOLECULAR ANALYSIS CORE

项目主管：蒙哥马利，罗伯特·R·核心B领导：贝利西莫，丹尼尔·B。 核心B：VWF表型和分子分析核心 A.描述核心项目及其与组成部分项目的关系 核心B是VWF表型和分子分析核心。这个核心是由止血药组成的 东南部血液中心的参考实验室和分子诊断实验室 威斯康星州。止血参考实验室将负责VWF实验室的全部表型。这个 分子诊断实验室将负责VWF基因的DNA测序，VWF基因连锁 导致VWF异常的非连锁修饰基因或原因的分析和DNA测序 表型。核心领导者Bellissimo博士拥有临床分子遗传学委员会认证，并拥有广泛的 指导临床分子诊断实验室的经验。他经常审查DNA测序数据以确定 临床VWF测序分析外显子18-20、外显子23-24和外显子28。核心联合领导弗里德曼博士 是止血参考实验室的医学主任。他有丰富的管理诊所的经验。 止血实验室，是von Willebrand病的治疗和诊断以及回顾方面的专家 VWF实验室结果。 冯·威尔布兰德因子测试在技术上是复杂的。我们认为，至关重要的是，常规的临床 实验室将成为

Program Director: Montgomery, Robert R. Core B Leader: Bellissimo, Daniel B. CORE B: VWF PHENOTYPING ANDMOLECULAR ANALYSIS CORE A. Description of Core and Relationship to Component Projects Core B is the VWF Phenotyping and Molecular Analysis Core. This Core is composed of the Hemostasis Reference Laboratory and the Molecular Diagnostics Laboratories at The Blood Center of Southeastern Wisconsin. The Hemostasis Reference Laboratory will be responsible for full VWF laboratory phenotyping. The Molecular Diagnostics Laboratory will be responsible for DNA sequencing of the VWF gene, VWF gene linkage analysis and DNA sequencing of non-linked modifier genes or causes that contribute to an abnormal VWF phenotype. The Core Leader, Dr. Bellissimo, is board certified in Clinical Molecular Genetics and has extensive experience directing a clinical molecular diagnostics laboratory. He routinely reviews DNA sequencing data for clinical VWF sequencing assays for exons 18-20, exons 23-24 and exon 28. The Core Co-Leader, Dr. Friedman, is the medical director of the Hemostasis Reference Laboratory. He has extensive experience running a clinical hemostasis laboratory and is an expert in the treatment and diagnosis of von Willebrand disease and in reviewing VWF laboratory results. Von Willebrand factor testing is technically complex. We feel that it is critically important that a routine clinical lab be the