Bionano Optical Mapping Method

Cytogenetic methods, especially chromosome analysis for the analysis of structural and numerical variants, constituted our main diagnostic methods in the diagnosis and treatment of many diseases, especially hematological cancers. Factors such as low resolution, requiring serious labor and time, not always obtaining a clear result, being open to errors in culture methods, needing an experienced and expert geneticist in the analysis process are the missing aspects of these methods. However, with the dizzying development speed of technology, the old traditional methods targeting the analysis of structural and numerical variants are now being replaced by the whole genome optical mapping method, which is a high technology. The whole genome optical mapping method is more error-proof due to the fact that it requires much less labor and time compared to the old methods, offers precise and fast results, converts the changes to be detected in the analysis process into digital data and operates a process based on bioinformatic algorithms. Cytogenetic diagnosis has now evolved from Conventional (Traditional) Cytogenetics to the Next Generation Cytogenomic process with optical mapping method.