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September 5, 2025DiagnosticsOpen Access

Clinical Utility of a Targeted Next-Generation Sequencing Panel for Inherited Platelet Disorders in Children

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Authors

DKDilek KaçarMAMustafa AltanTBTuran Bayhan

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Overview

Retrospective analysis identified genetic variants in 32.3% of children with inherited platelet disorders, suggesting targeted sequencing can aid diagnosis.

Key Points

  • Genetic variants were found in 32.3% of children evaluated for inherited platelet disorders.
  • Of 37 identified variants, 40.5% were novel, highlighting the potential of targeted sequencing panels.
  • The majority of variants (64.9%) were classified as variants of uncertain significance, indicating complexity in interpretations.
  • Next-generation sequencing assists in genetic counseling and the management of inherited platelet disorders.

Cite This Study

Kaçar et al. (2025) studied this question.

synapsesocial.com/papers/68c239e5b210217d6477e7a3https://doi.org/10.3390/diagnostics15172210
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1"Diagnosis of Inherited Platelet Disorders": Update of the Interdisciplinary S2k-Guideline [] of the Permanent Pediatric Commission of the Society of Thrombosis and Haemostasis Research (GTH e.V.).2025
  2. 2Germline genetic testing uncovers a high frequency of inborn error of immunity diagnoses in children with single and multi-lineage immune cytopenias in a large US cohort2025
  3. 3Molecular Pathogenesis of Inherited Platelet Dysfunction2025
  4. 4CO35 | Bleeding phenotype characterization in patients with congenital bleeding disorders: a multigenic approach using next generation sequencing to identify coagulation-modulating variants2025
  5. 5The genetic landscape of lymphoma: Insights from a primary immunodeficiency NGS panel in lymphoma patients2025