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.