{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T10:51:56Z","timestamp":1775904716480,"version":"3.50.1"},"reference-count":35,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T00:00:00Z","timestamp":1756512000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background\/Objectives: Inherited platelet disorders (IPDs) are diverse conditions characterized by abnormalities in platelet count and function. Next-Generation Sequencing (NGS) shows promise as a diagnostic tool in the diagnosis of IPDs. This study aims to assess the clinical value and limitations of using a targeted NGS panel in diagnosing children with suspected IPDs. Methods: We conducted a retrospective study of 93 children evaluated for suspected IPDs. A targeted NGS panel of 14 IPD-associated genes (RUNX1, WAS, ADAMTS13, ANKRD26, CYCS, GATA1, GP1BA, GB1BB, GP9, ITGA2B, ITGB3, MASTL, MPL, MYH9) was performed. Results: Genetic variants were identified in 30 patients (32.3% of the cohort). A total of 37 variants, of which 15 (40.5%) were novel, were found across 11 of the 14 genes on the panel (all except MPL, CYCS, and RUNX1). Variants were most frequently found in ITGB3 (18.9% of variants), GP1BA (16.2%), and ADAMTS13 (16.2%) genes. The majority of variants (64.9%) were classified as variants of uncertain significance (VUS), followed by likely pathogenic (LP) (27%) and pathogenic (8.1%) variants. Most variants were in a heterozygous state (73%). Specific cases highlighted complex genetic scenarios, such as co-occurring variants, and the identification of pathogenic and LP variants in patients initially presenting with immune thrombocytopenia. Conclusions: NGS helps to identify genetic causes, assess risk, manage, and provide genetic counseling in the management of IPDs. However, the prevalence of VUS underscores the need for a multidisciplinary approach to evaluate NGS results accurately.<\/jats:p>","DOI":"10.3390\/diagnostics15172210","type":"journal-article","created":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T14:02:46Z","timestamp":1756735366000},"page":"2210","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical Utility of a Targeted Next-Generation Sequencing Panel for Inherited Platelet Disorders in Children"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0825-8316","authenticated-orcid":false,"given":"Dilek","family":"Ka\u00e7ar","sequence":"first","affiliation":[{"name":"Department of Pediatric Hematology Oncology, Ankara Bilkent City Hospital, University of Health Sciences, Ankara 06800, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8998-3087","authenticated-orcid":false,"given":"Mustafa","family":"Altan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara 06800, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5793-5606","authenticated-orcid":false,"given":"Turan","family":"Bayhan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Oncology, Ankara Bilkent City Hospital, Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University, Ankara 06800, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8935-6983","authenticated-orcid":false,"given":"Said Furkan","family":"Y\u0131ld\u0131r\u0131m","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara 06800, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatma Bur\u00e7in","family":"Kurtipek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Oncology, Ankara Bilkent City Hospital, Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University, Ankara 06800, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8316-3603","authenticated-orcid":false,"given":"\u00d6zlem","family":"Arman Bilir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Oncology, Ankara Bilkent City Hospital, University of Health Sciences, Ankara 06800, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nam\u0131k Ya\u015far","family":"\u00d6zbek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Oncology, Ankara Bilkent City Hospital, University of Health Sciences, Ankara 06800, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ne\u015fe","family":"Yaral\u0131","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Oncology, Ankara Bilkent City Hospital, Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University, Ankara 06800, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"11","DOI":"10.5045\/br.2022.2021223","article-title":"Diagnostic workup of inherited platelet disorders","volume":"57","author":"Kim","year":"2022","journal-title":"Blood Res."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1111\/jth.15113","article-title":"Population based frequency of naturally occurring loss-of-function variants in genes associated with platelet disorders","volume":"19","author":"Oved","year":"2021","journal-title":"J. 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