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October 15, 2025International Journal of Environmental SciencesOpen Access

Diagnostic Yield And Clinical Impact Of Next-Generation Sequencing In A Saudi Tertiary Hospital: A Two-Year Experience

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Authors

LALujain A. AlsiniMAMadawi I. AlhassounMAM. Alanazi

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Overview

This study investigates the diagnostic yield of next-generation sequencing in patients with genetic disorders, highlighting its significant clinical impact.

Key Points

  • Next-generation sequencing showed a diagnostic yield of 38.1%, particularly in neurological disorders.
  • Neurological disorders had the highest diagnostic rate at 45.6%, compared to 21.9% in oncology cases.
  • Among 162 variants identified, 119 were classified as pathogenic or likely pathogenic, supporting better patient management.
  • Clinical management adjustments occurred in 22.8% of cases, emphasizing the importance of targeted therapies and genetic insights.

Cite This Study

Alsini et al. (2025) studied this question.

synapsesocial.com/papers/68f01110f081da0584b56923https://doi.org/10.64252/ha3x3143
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Also Consider

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

  1. 1Assessing the impact of exome sequencing on diagnostic yield in a large cohort of Brazilian patients2025 · 2 citations
  2. 2Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience2025
  3. 3Diagnostic yield of whole exome sequencing in a cohort of 825 patients2025 · 4 citations
  4. 4Attitude and awareness of the public toward genetic testing in Saudi Arabia2025 · 1 citations
  5. 5A single-center study: three years of experience with whole-exome sequencing in diagnosing pediatric hematological disorders2026