Nadir Hastalıklarda WES Analizi ile Saptanan Genetik Varyantlar

Next-generation sequencing tests have become a part of the diagnostic process in most fields of medicine. Especially with whole-exome sequencing (WES) studies, the rate of diagnosis has increased in rare hereditary diseases. In this study, we aimed to present the results together with the clinical findings of 65 cases whose diseases are suspected to be of genetic origin. Between 2016 and 2019, patients who underwent WES testing in Bursa Yüksek İhtisas Training and Research Hospital Medical Genetics Unit were retrospectively screened and included in the study with their analysis results and clinical findings. In 27 of the 65 cases (41.5 %) included in the study, 30 significant variants were found in relation to their clinical findings. Twenty of these variants (66.7 %) have not been previously reported in literature. Rare diseases encountered in patients within a wide age range, from the fetus to 66 years of age, are presented along with their clinical findings and WES results. Thus, this study contributes to the mutation spectrum of hereditary diseases.