General News

---World Children’s Day---

On this special day dedicated to the health and well-being of children, let’s spotlight the importance of early screening and diagnosis in fighting devastating genetic diseases like Spinal Muscular Atrophy (SMA).

ABOUT SMA

Spinal Muscular Atrophy (SMA) is an autosomal recessive genetic disorder characterized by the degeneration of motor neurons in the anterior horn of the spinal cord. Clinically, it manifests as progressive and symmetrical muscle weakness, atrophy, and paralysis, primarily affecting the proximal extremities and trunk. SMA is the leading genetic cause of death in children under 2 years old, often resulting in early death.

SMN1 Gene and Its Role in SMA

The SMN1 gene is the key genetic factor in SMA, while SMN2 is a regulatory gene with a lesser role. Statistically, approximately 95% of SMA patients exhibit a complete absence of exon 7 and/or exon 8 in both copies of the SMN1 gene. The remaining 5% of patients show a combination of a single copy of exon 7 deleted in the SMN1 gene, along with a point mutation resulting in compound heterozygosity.

Tianlong SMN1 Gene Detection Kit: Accurate Screening for SMA

Tianlong's Human Survival Motor Neuron 1 (SMN1) Gene Detection Kit offers an accurate and comprehensive genetic test for SMA. Using the PCR melting curve method, it detects the copy number of SMN1 at exons 7 and/or 8 in human genomic DNA. This makes the kit an ideal solution for: 
✅ Screening SMN1 gene carriers
✅ Supporting the diagnosis of SMA patients

Early detection provides families and healthcare professionals with critical insights, enabling timely interventions and improved outcomes.

Together, let’s work towards a world where every child has the chance to grow and thrive.