Swiss drug major Roche Holding AG (RHHBY,RO.SW,ROG.SW) announced Wednesday the launch of newborn screening test for three severe genetic conditions, such as Spinal Muscular Atrophy or SMA, Severe Combined Immunodeficiency Disease or SCID, and Sickle Cell Disease or SCD, simultaneously.
TIB MOLBIOL, a subsidiary of Roche Diagnostics, has launched the LightMix Newborn TREC/SMN1/HBB kit, an in vitro diagnostic test for newborn screening in countries accepting the CE mark. The LightMix Newborn TREC/SMN1/HBB kit runs on established LightCycler systems.
SMA is a genetic neuromuscular disorder causing progressive degeneration of nerve cells in the spinal cord, leading to muscle weakness. SCID is a group of rare, life-threatening genetic disorders characterised by a lack of functioning T cells, leaving infants with virtually no immune system.
SCD is an inherited red blood cell disorder caused by a genetic mutation in the HBB gene.
According to the firm, the launch of the IVDR-approved test provides a crucial, ready-to-use solution for private and academic hospital labs, enabling the early detection of these devastating conditions. With early diagnosis, clinicians can provide answers for patients and their families and enable them to access the appropriate treatments sooner.
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