Innovative, Easy-to-Use Molecular Diagnostics Platform Advances Newborn Screening

Newborn screening is essential for identifying and addressing potential health issues in infants early on, improving their long-term health prospects. Screening centers are continuously working to enhance their efficiency and adapt their spaces to meet modern laboratory standards. The global push to include screenings for severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA) in newborns is increasing. Early detection of these inherited conditions is crucial for effective treatment. For SMA, there are therapies available to halt the disease's progression. In cases of SCID, treatments combining immunoglobulin and stem cell therapies can be potentially curative if administered promptly. However, molecular testing for these and other congenital disorders has been limited, often due to costs and the specialized skills needed for conducting and interpreting these tests.

Revvity Inc. (Waltham, MA, USA) has launched the EONIS Q system which has received CE-IVD certification, allowing laboratories in countries recognizing CE marking to implement molecular testing for SMA and SCID in newborns. The EONIS Q system offers a simplified and efficient process for molecular testing of SMA and SCID. It includes the EONIS Q96 instrument, the EONIS SCID-SMA kit, and the EONIS EASI software, designed for an easy workflow. The system delivers results in about three hours from sample receipt. It stands out for its software capabilities and requires no washing steps, and fewer pipetting and centrifuging actions, reducing manual labor. It also uses fewer consumables and disposable plastics, making it a resource and cost-effective option for laboratories. The system's compact design and smaller size make it suitable for various lab environments, particularly beneficial for small to medium-sized labs, even those without a dedicated PCR clean room.

“Helping children get a healthier start to life is at the heart of our work and making molecular testing for inherited conditions like SMA and SCID more accessible can help further that aim,” said Petra Furu, general manager of reproductive health at Revvity. “Without compromising quality, speed or test result accuracy, the EONIS Q system is designed to break down some of the common barriers that prevent newborn screening labs from adopting these tests.”

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