Whole-exome sequencing in clinical application – experience of the Clinical Hospital Center Split
DOI:
https://doi.org/10.13112/pc.1049Keywords:
NEURODEVELOPMENTAL DISORDERS; CONGENITAL ABNORMALITIES; EXOME SEQUENCING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCINGAbstract
Objective: To report on the effectiveness of whole-exome sequencing (WES) in patients at the University Hospital of Split from January 2021 to December 2024.
Methods: WES analysis was performed in 64 patients with neurodevelopmental disorders, 20 patients with malformations, and 53 patients with disorders primarily affecting one organ system.
Results: WES analysis led to a diagnosis in 34.38 % of patients with neurodevelopmental disorders, variants in genes potentially associated with the phenotype were found in 32.81 %, and in 32.81 % no significant variants were found. In the case of malformations, a diagnosis was established after WES analysis in 40 % of patients, variants in genes potentially associated with the phenotype were found in 35 %, and no significant variants were found in 25 %. Among disorders that primarily affect one organ system, WES analysis was most successful in the case of neuromuscular disorders (diagnosis established in 45.45 % of cases), and the least successful in patients with epilepsy (diagnosis established in 16.67 %).
Conclusion: WES is an effective genetic test for patients with neurodevelopmental disorders and malformations and should be used early in the diagnostic workup because it can lead to the establishment of a diagnosis in a large number of cases. As for disorders that primarily affect one organ system, WES analysis is effective for neuromuscular disorders, while for other disorders, targeted gene panels or clinical exome sequencing should be primarily used.
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