Abstract:Objective: To compare the efficiency of three assay for carrier screening of spinal muscular atrophy. Methods: A total of 516 samples were re-tested for the SMN1 copy number by using multiplex ligation probe amplification (MLPA), droplet digital PCR (ddPCR), high-resolution melting (HRM) analysis, and PCR-based capillary electrophoresis (PCR/CE) simultaneously. Results: The results of ddPCR, HRM and PCR/CE in detecting SMN1 exon 7 are consistent with those of MLPA, resulting in 100% sensitivity and specificity. The sensitivity and specificity of HRM for detection of 1 copy SMN1 exon 8 were 100% and 99.5%, respectively. They were 99.4% and 100%, respectively for detection of 2 copies, and 100% and 100%, respectively for detection of >2 copies. Additionally, the results of PCR/CE in detecting both SMN1 and SMN2 exon 7 and exon 8 are consistent with those of MLPA, resulting in 100% sensitivity and specificity. Conclusion: Our study provides useful information to select appropriate methods for SMA carrier screening. Keywords: spinal muscular atrophy; carrier screening; ddPCR; HRM; PCR/CE