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platelet disorders (IPDs) are a group of rare conditions affecting platelet number, function, or both. Clinical manifestations vary widely, from asymptomatic cases to patients with severe bleeding, syndromic features, or early-onset blood cancers. Some are diagnosed due to family history. Early and accurate diagnosis\u2014through both clinical and molecular evaluation\u2014is essential for effective patient management and to avoid inappropriate treatments due to misdiagnosis. Genetic confirmation aids in prognosis, follow-up planning, family screening, genetic counseling, and donor selection for stem cell transplantation if required. However, diagnosing IPD is still challenging due to the disorders\u2019 complexity and the limitations of current lab tests. This review outlines the diagnostic process for IPD and provides evidence-based, practical recommendations informed by scientific literature and clinical experience.<\/jats:p>","DOI":"10.3390\/biom15060846","type":"journal-article","created":{"date-parts":[[2025,6,10]],"date-time":"2025-06-10T06:48:56Z","timestamp":1749538136000},"page":"846","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Diagnosis of Inherited Platelet Disorders: Clinical Evaluation and Functional and Molecular Assays"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4656-4771","authenticated-orcid":false,"given":"Ana","family":"S\u00e1nchez-Fuentes","sequence":"first","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Instituto Murciano de Investigaciones Biom\u00e9dicas (IMIB)-Pascual Parrilla, Universidad de Murcia, CIBERER-ISCIII-U765, 30503 Murcia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana","family":"P\u00e9rez-Botero","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Mayo Clinic, Rochester, MN 55905, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8007-3909","authenticated-orcid":false,"given":"Jos\u00e9 M.","family":"Bastida","sequence":"additional","affiliation":[{"name":"Departamento de Hematolog\u00eda, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca (IBSAL), Centro de Investigaci\u00f3n del C\u00e1ncer, IBMCC-CSIC, Universidad de Salamanca (USAL), 37007 Salamanca, Spain"},{"name":"Coordinators of Grupo Espa\u00f1ol de Alteraciones Plaquetarias Cong\u00e9nitas (GEAPC) of SETH c\/Aravaca 12, 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4225-6840","authenticated-orcid":false,"given":"Jos\u00e9","family":"Rivera","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Instituto Murciano de Investigaciones Biom\u00e9dicas (IMIB)-Pascual Parrilla, Universidad de Murcia, CIBERER-ISCIII-U765, 30503 Murcia, Spain"},{"name":"Coordinators of Grupo Espa\u00f1ol de Alteraciones Plaquetarias Cong\u00e9nitas (GEAPC) of SETH c\/Aravaca 12, 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,6,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Palma-Barqueros, V., Revilla, N., S\u00e1nchez, A., C\u00e1novas, A.Z., Rodriguez-Al\u00e9n, A., Mar\u00edn-Qu\u00edlez, A., Gonz\u00e1lez-Porras, J.R., Vicente, V., Lozano, M.L., and Bastida, J.M. 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