Imagine a fire alarm that doesn't go off until the flames have already taken hold. That's how spinal muscular atrophy (SMA) often works. By the time symptoms show, irreversible damage may already be underway.
But what if we could sound the alarm sooner, before the damage is done?
That's the goal of newborn screening for SMA: catching it early enough to intervene while there's still time to change the outcome. And for a growing number of labs, that possibility is now more accessible than ever.
What makes SMA so urgent
SMA is a rare genetic disorder, but one of the leading genetic causes of infant mortality. It affects the motor neurons that control movement, swallowing, and breathing.
In its most severe form, symptoms may appear just weeks after birth. But here's the hopeful part: disease-modifying therapies already exist. If treatment begins early, ideally before symptoms start, children have a far better chance at living longer, stronger, and more independent lives.
The key is timing. And the challenge is access.
The barriers to early diagnosis
Molecular testing is the gold standard for detecting SMA in newborns. But in many parts of the world, labs still struggle to implement it. The reasons? High costs, complex workflows, and limited technical capacity are important.
That means some babies are still slipping through the cracks, not because we lack the science, but because we lack the infrastructure.
A smarter way forward
Our Eonis™ Q system, an innovative qPCR solution that simplifies SMA and SCID screening for newborns, is changing that.
- It's fast: results in about 3 hours.
- It's compact: no PCR clean room required.
- It's efficient: fewer pipetting steps, less plastic waste, and minimal hands-on time.
Why it matters
In Europe, SMA advocates have set a bold goal: screen every newborn for SMA. With CE-IVD declared solutions like the Eonis™ Q system, that goal feels increasingly within reach. And it’s not an isolated effort. Around the world, more and more countries are prioritizing early detection, not just for SMA, but for dozens of life-threatening conditions where timing makes all the difference.
Every year, 33 million babies are screened using Revvity technologies, each one representing a chance to intervene, to inform, and to give families hope from day one.
But newborn screening is only the beginning. At Revvity, we see diagnostics as the first chapter in a much bigger journey, one that also includes supporting research, discovery, and even the development of therapies. Our vision is to close the gap: from detecting disease early to ultimately finding cures for the very conditions we help identify.
And we know we can’t do this alone. That’s why we work side by side with our customers, helping them uncover the challenges that stand in the way today, and finding new ways to overcome them together. Because every barrier removed is another step toward better outcomes.
Bridging the gap from research and discovery to diagnostics and cure. Challenge accepted.
Revvity is a trademark of Revvity, Inc. All other trademarks are the property of their respective owners.
For in vitro diagnostic use. This product is only available where licensed in accordance with law. Please contact your local representative for availability.
