Gustavo Barcelos Barra and colleagues at Sabin Medicina Diagnostica in Brasilia, Brazil, are developing a next-generation sequencing (NGS) panel that detects a mutation in a small spot on the SMN1 gene which causes spinal muscular atrophy.
The developers described the panel in a scientific poster session on Tuesday at AACC 2022.
Spinal muscular atrophy is the leading inherited cause of infant death after cystic fibrosis; early diagnosis and treatment are crucial to giving affected newborns the best chances at healthy lives.
However, most newborn screening panels that use NGS do not detect this condition.
The most common form of spinal muscular atrophy is caused by an abnormal version of the gene SMN1, which produces a protein essential to nerve cells involved in muscle movement.
NGS panels -- which analyze hundreds of genes for disease-causing changes -- typically exclude SMN1 because of difficulty distinguishing it from another gene known as SMN2. The two differ only in the small spot on the SMN1 gene.
Using their NGS panel, Barra and his colleagues tested 52 DNA samples from spinal muscular atrophy patients and then compared the results to those from a single-gene polymerase chain reaction (PCR) test, a widely used method for diagnosing this condition.
After eliminating four samples for technical reasons, the researchers found that panel results for SMN1 and the single-gene test agreed in all cases.
Including spinal muscular atrophy on NGS panels means that "parents do not have to look for an additional test for [this condition]," Barra said in a statement, adding that it would save laboratories from performing an extra test for spinal muscular atrophy along with NGS newborn screening.