Roche Diagnostics has launched a new in vitro diagnostic test for newborn screening to detect a series of rare disorders.
Unlike comparable tests that rely on multiple assays, Roche’s LightMix Newborn TREC/SMN1/HBB kit simultaneously screens for Spinal Muscular Atrophy (SMA), Severe Combined Immunodeficiency Disease (SCID), and Sickle Cell Disease (SCD) through a single assay.
Detecting and diagnosing severe genetic disorders early is critical for giving medical experts time to develop treatments for newborns.
For example, an early diagnosis of SMA before the emergence of symptoms can prevent irreversible nerve and muscle damage. Similarly, early detection of SCD can lower infant mortality up to 90% through preventative penicillin measures.
“When a baby is born with a condition like SMA or SCID, every single day counts,” said Marcus Droege, CEO of TIB MOLBIOL, a subsidiary of Roche Diagnostics.
“Catching these diseases before symptoms appear isn't just about early diagnosis; it's the difference between a child thriving or facing severe, lifelong disability,” he added.
“By expanding our compliant newborn screening tools across Europe, we are helping laboratories transition to high-precision solutions that ensure no critical diagnosis is delayed.”
While Roche Diagnostics’ competitor ViennaLabs and others offer early screening tests for SMA, SCID, and SCD, each test is performed individually with a separate assay.
The LightMix Newborn TREC/SMN1/HBB kit runs on established LightCycler systems and is designed to integrate into existing workflows.
In 2025, the FDA approved a 5 mg tablet formulation of Evrysdi (risdiplam) to treat SMA in adults and children ages two and older who weigh more than 44 pounds.
Made by PTC Therapeutics in collaboration with Roche and the SMA Foundation, Evrysdi increases production of survival motor neuron (SMN) proteins in the central nervous system and peripheral tissues to target the root cause of SMA.
Roche has also investigated crovalimab as a treatment for SCD but does not have any approvals for the therapy.