Newborn genetic screening : Early detection of SMA & SCID with qPCR screening kits for laboratories
A critical milestone in neonatal screening
Newborn screening is now widely recognized as a critical step in the prevention and early management of rare genetic disorders. Among these, two conditions require immediate detection :
- Spinal Muscular Atrophy (SMA): a neuromuscular disease caused by the loss of the SMN1 exon 7 gene.
- Severe Combined Immunodeficiency (SCID): a severe immune disorder characterized by a profound deficiency or absence of T and B lymphocytes.
SCID & SMA detection kit : A reference tool for laboratories
The NEONATAL SCID & SMA Screening qPCR FLEX kit is a multiplex qPCR assay designed for the analysis of dried blood spots (DBS) collected on 903® or 226 filter paper.
It enables:
- Semi-quantitative detection of T-cell receptor excision circles (TREC) for SCID.
- Qualitative detection of the SMN1 exon 7 gene for SMA.
Benefits for laboratory workflows
The SMA & SCID detection kit meets the performance and reliability standards expected in medical biology and diagnostic laboratories :
- Standardization: optimized protocol, compatible with multiple real-time PCR instruments.
- Integrated affected and healthy DBS controls to optimize plate space utilization.
- Speed: extraction, amplification, and result reading in less than one working day.
This kit provides a robust screening solution for laboratories aiming to implement or strengthen early detection in newborns.
GeneFoxCub : Software supporting laboratory workflows
Beyond the kits themselves, automation plays a critical role. GeneFoxCub software, developed to optimize neonatal screening workflows, supports laboratories by providing:
- Automated interpretation of results,
- Standardization of procedures,
- Regulatory compliance,
- Significant time savings in the diagnostic process.
By combining GeneFoxCub with the SMA & SCID kit, laboratories benefit from a complete and high-performance solution, covering the entire process from sample preparation to final analysis.
Conclusion
The combination of the SMA & SCID detection kits with the GeneFoxCub software represents the new generation of screening solutions. These technologies provide healthcare professionals and laboratory staff with reliable, rapid, and standardized tools that improve neonatal outcomes.
By integrating these innovations, newborn screening for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) becomes not only more accessible but also more automated and harmonized, paving the way toward universal screening for these rare diseases.