Roche Diagnostics subsidiary TIB MOLBIOL has introduced the LightMix Newborn TREC/SMN1/HBB in vitro diagnostic test kit designed to screen for three severe genetic conditions in markets that accept the CE mark.
The ready-to-use assay operates on LightCycler systems and evaluates samples simultaneously for sickle cell disease (SCD), spinal muscular atrophy (SMA), and severe combined immunodeficiency disease (SCID).
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It is intended for academic and private hospital laboratories to support early detection, serving as a first-tier screening mechanism to prompt subsequent diagnostic testing and medical intervention.
Detecting these disorders at birth provides healthcare professionals with actionable clinical data, allowing therapeutic measures to begin before symptoms emerge.
TIB Molbiol CEO Marcus Droege said: “When a baby is born with a condition like SMA or SCID, every single day counts. 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.
“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.”
The three target conditions can lead to severe health consequences if not identified quickly.
SCD stems from a mutation in the haemoglobin subunit beta (HBB) gene that causes red blood cells to become rigid and break down prematurely. Early diagnosis allows for timely care, including preventive penicillin and specialised immunisations.
SMA is caused by homozygous survival motor neuron 1 (SMN1) exon 7 deletions and leads to progressive spinal nerve degeneration and muscle weakness. Detecting the condition at birth allows clinicians to initiate targeted therapies immediately.
SCID is characterised by a lack of functioning T cells that leaves infants without an active immune system. Early screening enables lifesaving interventions, such as bone marrow transplants, before the occurrence of dangerous infections.
Based in Germany, TIB Molbiol was founded in 1990 as an oligonucleotide producer and supplies modular and ready-to-use molecular PCR [polymerase chain reaction] assays for infectious and genetic diseases.
In August, Roche’s Elecsys pTau217 blood test for Alzheimer’s disease assessment secured clearance from the US Food and Drug Administration.
