Primary ciliary dyskinesia is a rare genetic ciliopathy characterized by impaired clearance of the airway, leading to recurrent airway infections and various pulmonary conditions. The underlying cause of PCD is complex and involves diverse mechanisms. On one hand, advancements in genetic analysis techniques have significantly contributed to identifying the mutated genes associated with PCD, which in turn, can aid in understanding the variable clinical presentations of the disease. On the other hand, based on the mutated gene, disease manifestation may change and this makes it more challenging to establish a standardized diagnosis approach. Hence, it is important to approach it with a comprehensive perspective. In this study, 8 Turkish individuals with PCD were subjected to whole-exome sequencing (WES) analysis, as well as other diagnostic tests such as ciliary beat frequency measurement, immunofluorescence staining (IF), and confocal microscopy. The findings from this study not only contribute to the enlightenment of PCD aetiology but also emphasize the importance of a multidisciplinary approach when diagnosing and understanding this complex genetic disorder.