Roche Diagnostics unveils single-assay newborn test for SMA, SCID and Sickle Cell Disease

Roche Diagnostics introduced a new in‑vitro diagnostic kit called LightMix Newborn TREC/SMN1/HBB that can screen newborns for three rare genetic disorders in a single test.

The assay simultaneously detects spinal muscular atrophy, severe combined immunodeficiency, and sickle cell disease, conditions where early identification can dramatically improve outcomes.

Early diagnosis of SMA can prevent irreversible nerve damage, while early detection of SCD can cut infant mortality by up to 90 percent with preventive antibiotics, and timely treatment of SCID is critical for survival.

Roche aims to expand the test across European newborn screening programs, positioning it as a high‑precision alternative to multiple separate assays offered by competitors.