Abstract: Objective To establish and clinically evaluate a capillary electrophoresis-based approach for expanded carrier screening. Methods We used capillary electrophoresis to detect 448 disease-causing variants among 24 genes associated with 20 diseases in 1 099 individuals. The detected variants were confirmed by alternative methods. Results The capillary electrophoresis results were totally consistent with those of alternative methods. Of the 1 099 individuals, 190 (17. 3 % , 109 / 1 099) were identified as carriers for at least one condition, and the most common disease carried by individuals was GJB2-related non-syndromic hearing loss. Of the 1 075 females, 8 (7. 4 ‰, 8 / 1 075) were identified as carriers for X-linked disorders. Conclusion We successfully established a capillary electrophoresis-based method for expanded carrier screening.

Key words: expanded carrier screening, monogenic diseases, capillary electrophoresis, variants