Spinal muscular atrophy (SMA) is one of the most difficult diseases to treat using genetic testing and molecular diagnostics. Muscle weakness, atrophy, and eventual paralysis are the results of SMA, an autosomal recessive genetic disorder that attacks motor neurons in the spinal cord. The SMN1 gene is crucial to spinal muscular atrophy and its progression. The Human Survival Motor Neuron 1 (SMN1) Gene Detection Kit-P124H was created by Tianlong, a well-respected name in genetic diagnostics, and it allows for thorough SMA genetic testing. In this piece, we’ll examine the kit’s capabilities and its relevance to SMA diagnosis.
Understanding Spinal Muscular Atrophy (SMA)
SMA is a challenging condition, characterized by the degeneration of motor neurons in the spinal cord, resulting in muscle weakness and paralysis. The main culprit behind SMA is the SMN1 gene, with its regulatory counterpart, SMN2, playing a secondary role. Remarkably, approximately 95% of individuals affected by SMA exhibit a complete absence of exon 7 and/or exon 8 in both copies of the SMN1 gene. The remaining 5% of patients display a unique combination of genetic anomalies. This complexity demands a precise and comprehensive approach to diagnosis and screening, which is where the Tianlong Human Survival Motor Neuron 1 (SMN1) Gene Detection Kit-P124H takes center stage.
Key Features of the SMN1 Gene Detection Kit-P124H
Quality Performance: The spinal muscular atrophy SMN1 kit’s ability to differentiate between 0, 1, and more than 2 copies of SMN1 in exon 7 and exon 8 makes it a powerful tool for detecting both SMA carriers and SMA patients.
Reduced Complexity: The Tianlong Gentier96E/R automates the original data into multiple melting curve analysis software, simplifying data analysis and ensuring accuracy.
Optimized Workflow: With DNA-to-data in just 2-3 hours and a mere 60 minutes of hands-on time, the kit streamlines the testing process, making it efficient and user-friendly.
Low Sample Concentration: The kit can detect samples with a minimum concentration of 10ng/uL, ensuring that even samples with limited genetic material can be analyzed.
High Precision: With a coefficient of variation (CV%) of the R value at less than 6%, the kit delivers consistent and precise results.
Global Accessibility: This kit holds CE and NMPA marks, making it accessible to a wide range of countries and healthcare providers.
Conclusion
In summary, the Tianlong Human Survival Motor Neuron 1 (SMN1) Gene Detection Kit-P124H is a groundbreaking solution in the fight against SMA. With its ability to detect the presence or absence of SMN1 gene copies, automate data analysis, and provide fast, accurate results, it empowers healthcare professionals in their quest to identify SMA carriers and patients.
