High-throughput genomic sequencing (NGS) proves reliable for detecting deletions of the SMN1 gene

Chinese researchers associated with the Beijing Genomics Institute (BGI) compared three molecular biology techniques to detect the number of copies of the SMN1 gene in order to confirm the genetic diagnosis of spinal muscular atrophy (SMA):

  • 478 DNA samples were studied simultaneously in quantitative PCR (qPCR), NGS and MLPA, the latter technique serving as a benchmark;
  • each technique had to recognize the three possible scenarios (0 copy, 1 copy or 2 copy of the SMN1 gene);
  • the authors believe that NGS is able to achieve this diagnosis than the other two methods;
  • in SMA, these properties make it particularly suitable for screening heterozygotes in the general population.


Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene. Zhao S, Wang Y, Xin X, et al. Sci Rep. 2022 Jan 7;12(1):223.