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      Targeted NGS Seen as Best When Screening for SMA and Its Carriers


      Targeted next generation sequencing (NGS) — a powerful genetic method that can identify mutations in several genes simultaneously — is superior to two commonly used genetic tests for the screening of spinal muscular atrophy (SMA), a study shows.

      These findings highlight targeted NGS as a reliable and promising approach for SMA screening, particularly in identifying disease carriers, the researchers noted. The study, “Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene,” was published in the journal Scientific Reports.

      Nearly all SMA cases are caused by the complete loss of exon 7 in both copies of the SMN1 gene — one inherited from the mother and one from the father. Exons are the sections of a gene that contain the information to generate proteins.

       

      Targeted NGS Seen As Best When Screening For SMA And Its Carriers
      Source: https://smanewstoday.com/news-posts/2022/01/21/targeted-next-generation-sequencing-ngs-best-sma-and-carrier-screening/
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