Spinal Muscular Atrophy (SMA) is a difficult genetic disorder that impacts many people around the world. Motor neurons in the spinal cord die off in SMA, which makes muscles weaker and weaker until they can’t move at all. Finding the SMN1 gene, which is a key part of diagnosing SMA, is the key to treating this disease. The Human Survival Motor Neuron 1 (SMN1) Gene Detection Kit-P124H from Tianlong has become an important weapon in the fight against SMA. This piece will talk about the amazing things this kit can do and how it can be used to find people who carry the SMN1 gene and have spinal muscular atrophy.
Understanding Spinal Muscular Atrophy
Spinal Muscular Atrophy is an autosomal recessive genetic disease with a profound impact on those affected. In the majority of SMA cases, approximately 95%, patients exhibit a complete absence of exon 7 and/or exon 8 in both copies of the SMN1 gene. The remaining 5% present a combination of having only one copy of exon 7 deleted in the SMN1 gene and a point mutation leading to compound heterozygosity of SMN1. Accurate and comprehensive genetic testing is imperative in addressing this complex condition.
The Power of Tianlong’s SMN1 Gene Detection Kit
The Tianlong Human Survival Motor Neuron 1 (SMN1) Gene Detection Kit-P124H is a revolutionary solution for spinal muscular atrophy genetic testing. It leverages the PCR melting curve method to perform precise gene detection for the copy number of SMN1 at the 7th exon and/or the 8th exon in human genomic DNA. This kit is designed to identify SMN1 carriers, an essential step in the diagnosis and prevention of spinal muscular atrophy.
Key Features of the SMN1 Gene Detection Kit
Quality Performance: The kit possesses the ability to differentiate between 0, 1, and more than 2 copies for SMN1 in exon 7 and exon 8, allowing for the detection of SMA carriers and patients.
Reduced Complexity: The Tianlong Gentier96E/R automates the original data into multiple melting curve analysis software for data analysis, simplifying the process and increasing accuracy.
Optimized Workflow: From DNA to data, this kit completes the process in 2-3 hours, with just 60 minutes of hands-on time. Efficiency is a cornerstone of the workflow.
Low Sample Concentration: The minimum sample detection concentration of the kit is 10ng/uL, ensuring that even low concentrations of DNA can be accurately tested.
High Precision: The coefficient of variation (CV%) of the R value is less than 6%, demonstrating the high precision of this testing method.
Global Accessibility: The kit is both CE and NMPA marked, making it accessible to a wide range of countries and regions.
Conclusion
When it comes to spinal muscular atrophy genetic testing, trust in the capabilities of Tianlong’s SMN1 Gene Detection Kit. It is a vital tool in the journey to early diagnosis and intervention, giving individuals and families the support they need to combat this challenging condition.
