ArticleResearch and practice in thrombosis and haemostasis2018
A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.
Article in Research and practice in thrombosis and haemostasis, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 32 citations in OpenAlex.
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
- Implementation and clinical utility of multigene panels for bleeding, platelet, and thrombotic disorders.Journal of thrombosis and haemostasis : JTH · 2025Review
- Application of multigene panel testing for bleeding, thrombotic, and platelet disorders in patients and the general population in China.Molecular biomedicine · 2025Article
- How we treat primary immune thrombocytopenia in adults.Journal of hematology & oncology · 2023Review
- [Research progress of Molecular diagnostic technique in Venous Thromboembolism].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2022Article
- COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.Prenatal diagnosis · 2022Article
- "CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).Frontiers in pediatrics · 2022Article
- Learning the Ropes of Platelet Count Regulation: Inherited Thrombocytopenias.Journal of clinical medicine · 2021Review
- Improving interpretation of genetic testing for hereditary hemorrhagic, thrombotic, and platelet disorders.Hematology. American Society of Hematology. Education Program · 2020Review
- A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.Human mutation · 2020Article
- Inherited thrombocytopenias: history, advances and perspectives.Haematologica · 2020Review
- Genetic classification and confirmation of inherited platelet disorders: current status in Korea.Clinical and experimental pediatrics · 2020Article
- Diagnosis of Inherited Platelet Disorders on a Blood Smear.Journal of clinical medicine · 2020Article
- Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.Blood · 2019Article
- Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding.Frontiers in cardiovascular medicine · 2019Review
- A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.Research and practice in thrombosis and haemostasis · 2018Article
- Clinical and laboratorial characterization of a cohort of patients with hereditary platelet disorders in Brazil.Hematology, transfusion and cell therapyArticle
Corrections and comments
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Authors and funding
18 authors at 11 institutions in 1 country.
Funding
Abstract
backgroundInherited thrombocytopenias (ITs) are a heterogeneous group of disorders characterized by low platelet counts and often disproportionate bleeding with over 30 genes currently implicated. Previously the UK-GAPP study using whole exome sequencing (WES) identified a pathogenic variant in 19 of 47 (40%) patients of which 71% had variants in genes known to cause IT.
aimsTo employ a targeted next-generation sequencing platform to improve efficiency of diagnostic testing and reduce overall costs.
methodsWe have developed an IT-specific gene panel as a pre-screen for patients prior to WES using the Agilent SureSelect
resultsThirty-one patients were analyzed using the panel-based sequencing, of which; 10% (3/31) were identified with a classified pathogenic variant, 16% (5/31) were identified with a likely pathogenic variant, 51% (16/31) were identified with variants of unknown significance, and 23% (7/31) were identified with either no variant or a benign variant. DISCUSSION AND
conclusionAlthough requiring further clarification of the impact of the genetic variations, the application of an IT-specific next generation sequencing panel is an viable method of pre-screening patients for variants in known IT-causing genes prior to WES. With an added benefit of distinguishing IT from idiopathic thrombocytopenic purpura (ITP) and the potential to identify variants in genes known to have a predisposition to hematological malignancies, it could become a critical step in improving patient clinical management.
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