2019
DOI: 10.1055/s-0039-1679922
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Update on Molecular Testing in von Willebrand Disease

Abstract: Diagnosis of von Willebrand disease (VWD) depends on personal and family history of bleeding and confirmatory laboratory testing. Currently available phenotypic tests for VWD contain potential sources for error that may distort results. Despite an exponential growth of information about the von Willebrand factor gene (VWF), the role of molecular diagnosis in VWD is still controversial. Due to the complexity and high cost of conventional molecular analyses, some investigators have recommended limiting this appr… Show more

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Cited by 15 publications
(17 citation statements)
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“…The PCM-EVW-ES (Molecular and Clinical Profile of von Willebrand Disease in Spain) study reported 99% sensitivity and specificity for NGS over conventional methods (98%), with good phenotype-genotype correlations. 67 The utility of genetic testing in VWD depends on the subtype. Genetic testing has the highest importance for the confirmation of type 2 VWD.…”
Section: Benefits Of Genetic Testingmentioning
confidence: 99%
“…The PCM-EVW-ES (Molecular and Clinical Profile of von Willebrand Disease in Spain) study reported 99% sensitivity and specificity for NGS over conventional methods (98%), with good phenotype-genotype correlations. 67 The utility of genetic testing in VWD depends on the subtype. Genetic testing has the highest importance for the confirmation of type 2 VWD.…”
Section: Benefits Of Genetic Testingmentioning
confidence: 99%
“…3,5 Various genetic defects are known to cause VWD, although access to testing is not widely available 14 ; however, newer approaches may facilitate future wider testing. 15 Combined with varied phenotype among patients, and reported performance limitations of some assays, [16][17][18] accurate diagnosis and typing of VWD remain challenging. 19 VWF multimer analysis has no accepted gold standard methodology, classically is complex and time-consuming and requires specialised equipment and expertise.…”
Section: Introductionmentioning
confidence: 99%
“…Genetic testing is a final stage in diagnosis and classification, although emergence of next generation sequencing may alter its future positioning . Nevertheless, genetic testing is not mandated, nor required for a diagnosis of VWD, which currently relies on evidence of a bleeding history and results of phenotypic testing (this is primarily due to cost and complexity of genetic testing, and because many VWD cases are never identified to have a VWF “mutation”) .…”
Section: Discussionmentioning
confidence: 99%