Challenges and considerations of genetic testing in von Willebrand disease
von Willebrand disease (VWD) is the most common inherited bleeding disorder characterized by defects in the quantity or function of the von Willebrand factor (VWF). The diagnosis of VWD is complex, requiring a battery of tests to evaluate the amount, functions, and multimeric structure of the VWF gl...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Research and Practice in Thrombosis and Haemostasis |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S247503792500010X |
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| author | Omid Seidizadeh Luciano Baronciani Flora Peyvandi |
| author_facet | Omid Seidizadeh Luciano Baronciani Flora Peyvandi |
| author_sort | Omid Seidizadeh |
| collection | DOAJ |
| description | von Willebrand disease (VWD) is the most common inherited bleeding disorder characterized by defects in the quantity or function of the von Willebrand factor (VWF). The diagnosis of VWD is complex, requiring a battery of tests to evaluate the amount, functions, and multimeric structure of the VWF glycoprotein. The diagnosis can also be accomplished or confirmed by sequencing the VWF gene (VWF). Genetic testing of VWF has been around for 4 decades following the cloning of VWF, and nowadays, it has been integrated into the diagnostic panel of VWD. With the introduction of next-generation sequencing, genetic analysis of the VWF has become more practical than it was in the past, when Sanger sequencing was used. A number of laboratories have applied or started to use genetic testing with next-generation sequencing for VWD diagnosis. Considering the increasing application of genetic testing in VWD and the wide availability and decreasing cost of gene sequencing, we sought to discuss the challenges and considerations involved in applying genetic testing to VWD. |
| format | Article |
| id | doaj-art-00255be774c14647aae3079a5b96f136 |
| institution | Kabale University |
| issn | 2475-0379 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Research and Practice in Thrombosis and Haemostasis |
| spelling | doaj-art-00255be774c14647aae3079a5b96f1362025-02-02T05:29:09ZengElsevierResearch and Practice in Thrombosis and Haemostasis2475-03792025-01-0191102686Challenges and considerations of genetic testing in von Willebrand diseaseOmid Seidizadeh0Luciano Baronciani1Flora Peyvandi2Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy; Fondazione IRCCS Ca’Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, ItalyFondazione IRCCS Ca’Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, ItalyDepartment of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy; Fondazione IRCCS Ca’Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Correspondence Flora Peyvandi, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Via Pace 9, 20122 Milan, Italy.von Willebrand disease (VWD) is the most common inherited bleeding disorder characterized by defects in the quantity or function of the von Willebrand factor (VWF). The diagnosis of VWD is complex, requiring a battery of tests to evaluate the amount, functions, and multimeric structure of the VWF glycoprotein. The diagnosis can also be accomplished or confirmed by sequencing the VWF gene (VWF). Genetic testing of VWF has been around for 4 decades following the cloning of VWF, and nowadays, it has been integrated into the diagnostic panel of VWD. With the introduction of next-generation sequencing, genetic analysis of the VWF has become more practical than it was in the past, when Sanger sequencing was used. A number of laboratories have applied or started to use genetic testing with next-generation sequencing for VWD diagnosis. Considering the increasing application of genetic testing in VWD and the wide availability and decreasing cost of gene sequencing, we sought to discuss the challenges and considerations involved in applying genetic testing to VWD.http://www.sciencedirect.com/science/article/pii/S247503792500010XgeneticNGSVWDVWFVWF gene |
| spellingShingle | Omid Seidizadeh Luciano Baronciani Flora Peyvandi Challenges and considerations of genetic testing in von Willebrand disease Research and Practice in Thrombosis and Haemostasis genetic NGS VWD VWF VWF gene |
| title | Challenges and considerations of genetic testing in von Willebrand disease |
| title_full | Challenges and considerations of genetic testing in von Willebrand disease |
| title_fullStr | Challenges and considerations of genetic testing in von Willebrand disease |
| title_full_unstemmed | Challenges and considerations of genetic testing in von Willebrand disease |
| title_short | Challenges and considerations of genetic testing in von Willebrand disease |
| title_sort | challenges and considerations of genetic testing in von willebrand disease |
| topic | genetic NGS VWD VWF VWF gene |
| url | http://www.sciencedirect.com/science/article/pii/S247503792500010X |
| work_keys_str_mv | AT omidseidizadeh challengesandconsiderationsofgenetictestinginvonwillebranddisease AT lucianobaronciani challengesandconsiderationsofgenetictestinginvonwillebranddisease AT florapeyvandi challengesandconsiderationsofgenetictestinginvonwillebranddisease |