Novel Assay Enables Simultaneous Detection of SMA and SCID in Newborns
By LabMedica International staff writers Posted on 22 Nov 2022 |
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.”
Related Links:
PerkinElmer, Inc.
Latest Molecular Diagnostics News
- Advanced Blood Test to Spot Alzheimer's Before Progression to Dementia
- Multi-Omic Noninvasive Urine-Based DNA Test to Improve Bladder Cancer Detection
- First of Its Kind NGS Assay for Precise Detection of BCR::ABL1 Fusion Gene to Enable Personalized Leukemia Treatment
- Urine Test to Revolutionize Lyme Disease Testing
- Simple Blood Test Could Enable First Quantitative Assessments for Future Cerebrovascular Disease
- New Genetic Testing Procedure Combined With Ultrasound Detects High Cardiovascular Risk
- Blood Samples Enhance B-Cell Lymphoma Diagnostics and Prognosis
- Blood Test Predicts Knee Osteoarthritis Eight Years Before Signs Appears On X-Rays
- Blood Test Accurately Predicts Lung Cancer Risk and Reduces Need for Scans
- Unique Autoantibody Signature to Help Diagnose Multiple Sclerosis Years before Symptom Onset
- Blood Test Could Detect HPV-Associated Cancers 10 Years before Clinical Diagnosis
- Low-Cost Point-Of-Care Diagnostic to Expand Access to STI Testing
- 18-Gene Urine Test for Prostate Cancer to Help Avoid Unnecessary Biopsies
- Urine-Based Test Detects Head and Neck Cancer
- Blood-Based Test Detects and Monitors Aggressive Small Cell Lung Cancer
- Blood-Based Machine Learning Assay Noninvasively Detects Ovarian Cancer