Newborn test screens for sickle cell disease, SMA, and SCID at once

Roche has announced the launch of a new test that can screen newborns for sickle cell disease (SCD) and two other serious genetic disorders at the same time.

The test, known as the LightMix Newborn TREC/SMN1/HBB kit, simultaneously screens for SCD, spinal muscular atrophy (SMA), and severe combined immunodeficiency (SCID). It was launched by Tib Molbiol, a subsidiary of Roche Diagnostics.

According to a press release from Roche, the new test is available in countries that accept the CE mark, which indicates that a product meets applicable European Union requirements for health, safety, and environmental protection.

“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,” said Marcus Droege, PhD, CEO of Tib Molbiol.

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Early screening can help speed diagnosis and care

Newborn screening can identify certain serious conditions shortly after birth, often before symptoms appear. This can help affected babies receive an accurate diagnosis and appropriate care sooner.

SCD is a genetic disorder marked by an abnormal form of hemoglobin, the protein that red blood cells use to carry oxygen through the bloodstream. This can cause red blood cells to become deformed, leading to anemia, or low levels of healthy red blood cells or hemoglobin, and damage to the spleen, which increases the risk of infection.

Without appropriate care, SCD can be life-threatening early in childhood. Newborn screening allows for timely interventions like preventive antibiotics and specialized immunizations that can reduce the risk of infant mortality.

SMA and SCID are other genetic diseases where early intervention can make a world of difference.

SMA is marked by the progressive loss of motor neurons, the nerve cells that control movement. The most severe forms can be fatal early in life without treatment; in SMA type 1, the most common form, most untreated children do not survive beyond age 2. Available therapies can slow or even stop disease progression, but their ability to reverse damage that has already occurred is limited, making early detection and treatment especially important.

SCID, sometimes referred to in pop culture as the bubble boy disease, is a disorder where babies are born without a working immune system, leaving them vulnerable to infections. Early detection and prompt care can help protect these children from life-threatening infections.

“When a baby is born with a condition like SMA or SCID, every single day counts,” Droege said. “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.”