Wisconsin State Laboratory Adopts Quantabio Products to Improve Newborn Screening for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
Extracta DBS technology and PerfeCTa Multiplex qPCR ToughMix® kit used to develop and validate simultaneous screening method that can be quickly deployed in public health labs around the world
BEVERLY, Mass. – Aug. 5, 2019 – Quantabio, a leading provider of robust DNA and RNA amplification reagents for the most demanding molecular testing and life science research applications, today announced the Wisconsin State Laboratory of Hygiene has adopted its technology to improve newborn screening for Spinal Muscular Atrophy (SMA) and Severe Combined Immunodeficiency (SCID). Scientists are using the Quantabio Extracta DBS technology and PerfeCTa Multiplex qPCR ToughMix® kit to develop and validate a real‐time PCR assay to simultaneously screen for both disorders. In addition, the Extracta DBS reagent was also used for an optimized digital PCR (dPCR) assay for additional SMN2 copy number assessment following up on positive SMA. The information about SMN2 can help assess the severity of the condition.
SMA is one of the most common lethal recessive genetic conditions, with an incidence of one in 11,000 births.1 Public health laboratories have been searching for methods to identify affected children earlier to provide more effective care. The new multiplex PCR and digital PCR assays developed by the Wisconsin State Laboratory provide a faster, easier and more affordable screening approach. Compared to traditional methods, the Extracta DBS reagent provides more efficient DNA extraction from dried blood spots and the PerfeCTa Multiplex qPCR ToughMix reagents enable more sensitive assays.
“We make our technology choices based on several criteria, such as ease of use, consistent performance, and compatibility with challenging samples,” said Mei Baker, MD, Co-Director of Newborn Screening at Wisconsin State Laboratory of Hygiene and Professor of Pediatrics at University of Wisconsin School of Medicine and School of Public Health. “With Quantabio products, we were able to successfully develop and validate a real‐time multiplex PCR assay that simultaneously screens for SMA and SCID.”
Dr. Baker’s innovative DNA extraction technique was patented by the Wisconsin Alumni Research Foundation (WARF) and is now licensed and sold as part of Quantabio’s Extracta DBS. Extracta DBS offers significant throughput and efficiency improvements over available alternatives since it was designed for the higher throughput public health laboratory requirements. The simple 30-minute single-step solution for crude extraction of genomic DNA does not require a purification step. The extracted DNA has also been successfully used for Sanger and next-generation sequencing assays.
“Dr. Baker is one of the early pioneers in public health genetics, who is best known for establishing the world’s first Newborn Screening program for SCID,” said Heather Meehan, PhD, Vice President and Head of Quantabio. “Extracta DBS now combines her same pioneering extraction technique with our ability to scale production in a reliable manufacturing facility with stringent quality standards. This enhancement is another example of our ongoing commitment to improving product performance, accelerating turnaround times, streamlining workflows, and increasing affordability.”
To review a recent scientific poster from scientists at Wisconsin State Laboratory of Hygiene, please visit: https://www.quantabio.com/media/contenttype/S190967_2_of_3_-_APHL_2019-NBS_SMA_Poster-4×8-MWB-032919_Final.pdf
Quantabio is a leading provider of advanced DNA and RNA amplification reagents for the most demanding molecular testing applications in applied, translational and life science research. The Quantabio team leverages decades of experience in developing pioneering amplification technologies to deliver cutting-edge products to researchers focused on critical PCR, qPCR and Next-Generation Sequencing (NGS) based applications. Based in Beverly, Mass., Quantabio offers a growing portfolio of products through its international sales operations, as well as a global network of distributors and commercial service providers. For more information, please visit www.quantabio.com.
The Quantabio products are for Research Use Only; not for use in diagnostic procedures.
- Sugarman EA, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012;20(1):27–32. [PMC free article][PubMed] [Google Scholar]
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