Simultaneous detection of SMN1, SMN2, NAIP, H4F5, GTF2H2 copy number and SMN1 loss-of-function variants for SMA by MALDI-TOF mass spectrometry

Spinal muscular atrophy (SMA) is a common fatal genetic disorder with high carrier rate. For prevention program and treatment plan of this disease, a comprehensive assay is practically needed to gain multi-genetic information, enabling effective molecular screening and accurate clinical classification. In this study, a novel single-tube MALDI-TOF MS assay was developed to simultaneously analyze the copy number of SMN1, SMN2, NAIP, H4F5, GTF2H2, and identify six common loss-of-function variants in SMN1, as well as identify Hybrid SMN.