rarerelated tag: Causes

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.