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To our knowledge, this assay had not previously been utilised to identify an <jats:italic>ADAMTS13<\/jats:italic> variant and the additional testing was possible through the involvement of a genetic counsellor.<\/jats:p>","DOI":"10.1136\/bcr-2023-258295","type":"journal-article","created":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T12:18:45Z","timestamp":1718108325000},"page":"e258295","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Detection of novel duplication variant in <i>ADAMTS13<\/i> gene using chromosomal microarray analysis"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0789-7917","authenticated-orcid":false,"given":"Hannah Leigh","family":"Helber","sequence":"first","affiliation":[{"name":"Baylor College of Medicine Pediatrics Department, Texas Medical Center, Houston, Texas, USA"},{"name":"Cancer and Hematology Center, Texas Children's Hospital, Houston, Texas, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taylor Olmsted","family":"Kim","sequence":"additional","affiliation":[{"name":"Cancer and Blood Disorders Institute, Children's Hospital Los Angeles, Los Angeles, California, USA"},{"name":"University of Southern California Keck School of Medicine, Los Angeles, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"HyoJeong","family":"Han","sequence":"additional","affiliation":[{"name":"Division of Hematology, Children's National, Washington, District of Columbia, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,6,11]]},"reference":[{"key":"2025082801054373000_17.6.e258295.1","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1002\/rth2.12066","article-title":"Novel therapies in thrombotic Thrombocytopenic purpura","volume":"2","author":"Masias","year":"2018","journal-title":"Res Pract Thromb Haemost"},{"key":"2025082801054373000_17.6.e258295.2","unstructured":"Alwan F , Vendramin C , Liesner R , et al . 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Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties n.d, Available: https:\/\/doi.org\/10.1038\/s41436"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-258295","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:05:51Z","timestamp":1756368351000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-258295"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6]]},"references-count":12,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2024,6,11]]},"published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1136\/bcr-2023-258295"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-258295","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,6]]}}}