Novel Assay Enables Simultaneous Detection of SMA and SCID in Newborns

Spinal muscular atrophy (SMA) is a leading genetic cause of infant death and is characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. Severe combined immunodeficiency (SCID), which is a group of rare inherited disorders characterized by the absence of both humoral and cellular immunity, can also lead to life-threatening health complications if untreated. Early detection and intervention are critical for newborns affected by either condition. Now, the U.S. Food and Drug Administration (FDA) has authorized the first assay for SMA screening in newborns in the U.S.

PerkinElmer, Inc. (Waltham, MA, USA) has received US FDA authorization for the marketing of its EONIS SCID-SMA assay kit for in vitro diagnostic (IVD) use by certified laboratories for the simultaneous detection of SMA and SCID in newborns. The assay is part of the company’s broader EONIS Platform, which is a robust, flexible system that utilizes real-time PCR technology to screen for both SMA and SCID using a single dried blood spot sample, combining DNA extraction and multiplexing. When combined with PerkinElmer’s JANUS liquid handler, the company’s workflow allows for maximum automation and efficiency, and can be configured to a laboratory’s individual requirements and throughput. Other components of the platform include the EONIS DNA Extraction kit and EONIS Analysis Software. The EONIS Platform is already CE-IVD marked for use by certified laboratories in countries that accept the CE mark.

“For nearly three decades, PerkinElmer has delivered innovative solutions to laboratories and clinicians worldwide that help diagnose newborns with rare diseases and inherited disorders,” said Petra Furu, general manager of reproductive health at PerkinElmer. “This authorization is a major milestone for newborn screening in the United States. Labs across the country will be able to access technologies that detect SMA and SCID, and provide them the confidence that every test meets regulatory, manufacturing and accreditation requirements.”

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