SCID & SMA Neonatal Screening Kit: A breakthrough for early detection of rare diseases
What is SMA and why should it be screened at birth?
Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder caused by the absence of a protein essential for the survival of motor neurons. In most cases, it results from the deletion of the SMN1 gene. With the SMA detection kit, laboratories can identify this genetic deletion well before the first clinical symptoms appear.
Early diagnosis, within the first days of life, through newborn screening allows for immediate medical intervention. This significantly improves both the developmental potential and long-term prognosis for affected children.
SCID: An urgent diagnosis for a fatal immune disorder
Severe Combined Immunodeficiency (SCID) encompasses a group of rare, severe genetic disorders that impair the development of immune cells, particularly T and B lymphocytes. Although newborns with SCID may appear healthy at birth, they are extremely vulnerable to severe infections.
Without rapid diagnosis, infants with SCID are exposed to potentially fatal infections. The SCID detection kit measures T-cell receptor excision circles (TREC), a key biomarker for identifying this immune deficiency at an early stage.
A fully automated and integrated screening solution
The SCID & SMA kit is designed for professional use in diagnostic laboratories. It enables:
- Semi-quantitative determination of TREC (T-cell receptor excision circles), which are key markers for identifying SCID.
- Qualitative detection of the SMN1 gene (exon 7), aiding in the screening of SMA.
The solution is fully automated, from sample preparation to result analysis, thanks to the dedicated GeneFoxCub software.
GeneFoxCub: Advanced software for optimized neonatal screening
Developed by FoxWare for LaCAR, GeneFoxCub automates and optimizes neonatal screening workflows. It provides accurate interpretation, standardizes laboratory procedures, accelerates diagnostics, and ensures full compliance with current regulations.
Conclusion
The NEONATAL SCID&SMA Screening qPCR Flex kit, combined with the GeneFoxCub software, provides laboratories with a comprehensive and automated neonatal screening solution. This innovative approach makes the early detection of SMA and SCID faster, more reliable, and more accessible, greatly improving the chances of survival and healthy development for affected newborns.