Rapid discrimination of the phenotypic variants of von Willebrand disease

作者: Jonathan C. Roberts , Patti A. Morateck , Pamela A. Christopherson , Ke Yan , Raymond G. Hoffmann

DOI: 10.1182/BLOOD-2015-11-664680

关键词:

摘要: Approximately 20% to 25% of patients with von Willebrand disease (VWD) have a qualitative defect the factor (VWF) protein activities. Variant VWD typically is classified as type 1C, 2A, 2B, 2M, or 2N depending on VWF activity defect. Traditionally, diagnosis has relied multiple clinical laboratory assays assign phenotype. We developed an enzyme-linked immunosorbent assay (ELISA) measure various activities single plate and evaluated 160 patient samples enrolled in Zimmerman Program for Molecular Clinical Biology Disease 2 VWD. Using linear discriminate analysis (LDA), this was able identify overall accuracy 92.5% study cohort. LDA jackknife analysis, statistical resampling technique, identified variant 88.1%, which predicts assay's performance general population. In addition, demonstrated correlation traditional assays. The multiplex may be useful same-day screening when considering individual patient.

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