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At Tianlong, we are dedicated to creating first-class molecular diagnostic products that contribute to the well-being of individuals worldwide. Today, we want to shed light on the spinal muscular atrophy genetic test, an autosomal recessive genetic disease that affects thousands of people globally. SMA is characterized by the degeneration of motor neurons in the spinal cord, leading to muscle weakness, atrophy, and paralysis. We believe that accurate and comprehensive genetic testing is crucial for identifying SMA carriers and patients, which is why we have developed the Tianlong Human Survival Motor Neuron 1 (SMN1) Gene Detection Kit.

Understanding spinal muscular atrophy and its genetic test

Spinal muscular atrophy is primarily caused by abnormalities in the SMN1 gene, which plays a vital role in SMA. The absence of exon 7 and/or exon 8 in both copies of the SMN1 gene is observed in approximately 95% of SMA-affected individuals. In some cases, individuals may have only one copy of exon 7 deleted in the SMN1 gene, combined with a point mutation resulting in compound heterozygosity of SMN1. Detecting these abnormalities is critical for diagnosing SMA and identifying carriers who may pass the condition on to their children.

Benefits and advantages

The Tianlong Gene Detection Kit harnesses the power of the PCR melting curve method, enabling accurate and comprehensive spinal muscular atrophy genetic test. This innovative approach allows us to detect copy number variations in the SMN1 gene at exon 7 and/or exon 8 with exceptional precision.

Our kit provides quality performance, allowing differentiation between 0, 1, and greater than 2 copies of SMN1. This feature empowers healthcare professionals to identify SMA carriers and patients effectively. Additionally, the Tianlong Gentier96E/R automates data analysis, reducing complexity and streamlining the workflow. With only 60 minutes of hands-on time, DNA-to-data can be achieved in just 2-3 hours.

Furthermore, our kit exhibits high precision, with a coefficient of variation (CV%) of the R value being less than 6%. This ensures reliable and consistent results, giving healthcare providers confidence in their diagnoses. Moreover, the minimum sample detection concentration of the kit is 10ng/uL, making it suitable for various sample types.

Lastly, we are proud to share that the Tianlong Gene Detection Kit is CE and NMPA-marked, indicating its compliance with global quality standards. This accessibility allows healthcare professionals from across the world to utilize our kit for SMA testing.

Conclusion

At Tianlong, we are committed to advancing molecular diagnostics to improve patient outcomes. Our Human Survival Motor Neuron 1 (SMN1) Gene Detection Kit offers a breakthrough solution for accurate and comprehensive genetic testing of spinal muscular atrophy. By detecting abnormalities in the SMN1 gene, our kit empowers healthcare professionals in diagnosing SMA and identifying carriers. With features such as quality performance, optimized workflow, and high precision, the Tianlong Gene Detection Kit provides an essential tool in the fight against SMA.

As an industry leader globally in spinal muscular atrophy genetic tests, we continue to strive for excellence, driven by our passionate, tenacious, and innovative spirit. Our goal is to contribute to the well-being of individuals worldwide by providing cutting-edge solutions for genetic testing. Join us on this journey as we work towards a future where early and accurate diagnosis of genetic diseases like SMA leads to improved patient care and outcomes. Together, we can make a difference in the lives of individuals and families affected by spinal muscular atrophy.