Advances in Newborn SMA Screening research by SNP Biotechnology

Published On: 12 September, 2023

BSD Robotics is proud to share a recent study conducted by SNP Biotechnology R&D Ltd “A new line method; A direct test in spinal muscular atrophy screening for DBS” now published in the journal of Molecular Genetics and Genomic Medicine. Given spinal muscular atrophy (SMA) is one of the most prevalent genetic disorders affecting young children and a major cause of death in infancy, the importance of research in this area is paramount.

SNP Biotechnology has developed the new line method (NLM) as a direct real time PCR test procedure without DNA extraction in dried blood spots (DBS) to screen for homozygous deletion of exon 7 of the SMN1 gene. Samples were punched utilising the BSD semi-automated biosample puncher – BSD600 Ascent Junior – using 1.2mm diameter from each of the 580 DBS samples from newborns at Istanbul Acıbadem Hospital along with the additional 50 air dried DBS samples. Results of the study proved the proposed NLM minimized contamination risk, reduced processing time and improved environmentally sustainable standards.

Thank you SNP Biotechnology for the work you are doing in the newborn screening research field, we’re thrilled to be a part of such important advancements in newborn SMA screening research. Read the published paper here. 

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