Expanding Access to Newborn Screening with MRC Holland's Melt Assay for Spinal Muscular Atrophy
As more countries move toward implementing national newborn screening programs, the need for reliable, affordable, and easy‑to‑adopt first‑tier screening technologies is rapidly increasing.
MRC Holland aims to meet diverse needs by offering assays that cover multiple disorders as well as assays designed for a single, dedicated condition. In the latter category, and with a cost of ~2 euros per sample for larger screening programs, the SALSA® MC002 SMA Newborn Screen melt assay provides a cost-effective genetic solution that addresses the global demand for neonatal screening of spinal muscular atrophy (SMA). With growing regulatory approvals across regions – including the EU, Israel, Thailand, and most recently Vietnam – the assay is becoming increasingly accessible to screening laboratories seeking a robust solution for early SMA detection.
SMA is a severe genetic disorder affecting motor neurons and leading to progressive muscle weakness. The Melt Assay uses melt curve analysis to determine the presence or absence of exon 7 in the SMN1 and SMN2 genes using a simple dried blood spot (DBS) punch, enabling laboratories to achieve rapid turnaround times without the need for complex workflows. Its straightforward design makes it suitable for high‑volume newborn screening settings.
A key advantage of MC002 is its purpose‑built specificity for newborn screening. The assay is optimized to only identify patients – infants with zero functional SMN1 copies – enabling timely diagnosis and treatment, while not reporting carrier status. For confirmatory testing, SALSA® MLPA® Probemix P021 SMA can be used on the same DBS extract to verify the diagnosis and determine SMN2 copy number, an important factor in prognosis and treatment decision‑making.
Interested in implementing SMA newborn screening in your country?
With SMA therapies becoming increasingly effective when administered early, more countries are seeking solutions that enable swift and accurate detection within days after birth. The MC002 SMA Newborn assay is designed for exactly this purpose. Laboratories or national programs interested in adopting SMA newborn screening can request more information at info@mrcholland.com