title: Novel approaches for diagnosing inherited platelet disorders.
abstract: Inherited platelet disorders diagnosis is based on the clinical history and bleeding assessment tools. The laboratory functional assays as well as the molecular test to identify the pathogenic genetic variant are essential to confirm the accurate diagnosis of these disorders. Nowadays, the main challenges to developing a new diagnostic system are involved in reducing the samples' volume, and faster and more helpful analysis. Moreover, there are no widely available and standardised global tests. High throughput genetic testing such as next-generation sequencing has revolutionised DNA sequencing technologies as it allows the simultaneous and faster investigation of multiple genes at a manageable cost. This technology has improved the molecular characterisation of inherited platelet disorders and has been implemented in the research studies and the clinical routine practice.
authors.affiliation: Servicio de Hematología, Hospital Universitario de Salamanca, Instituto de Investigación Biomédica de Salamanca (IBSAL), Universidad de Salamanca (USAL), Salamanca, España. Electronic address: jmbastida@saludcastillayleon.es.
authors.forename: José María
authors.initials: JM
authors.lastname: Bastida Bermejo
authors.affiliation: Servicio de Hematología, Hospital Universitario de Salamanca, Instituto de Investigación Biomédica de Salamanca (IBSAL), Universidad de Salamanca (USAL), Salamanca, España.
authors.forename: Jesús María
authors.initials: JM
authors.lastname: Hernández-Rivas
authors.affiliation: Servicio de Hematología, Hospital Universitario de Salamanca, Instituto de Investigación Biomédica de Salamanca (IBSAL), Universidad de Salamanca (USAL), Salamanca, España.
authors.forename: José Ramón
authors.initials: JR
authors.lastname: González-Porras
mesh_terms: D001791:Blood Platelet Disorders / Q000175:diagnosis* / Q000235:genetics*; D005819:Genetic Markers; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008487:Medical History Taking; D010808:Physical Examination; D010979:Platelet Function Tests; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D005819:Genetic Markers
keywords: Inherited platelet disorders; Laboratory functional assays; Next-generation sequencing; Pruebas funcionales de laboratorio; Secuenciación masiva; Trastornos plaquetarios hereditarios