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Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by degeneration of motor neurons in the anterior horn of the spinal cord, which clinically manifests as progressive and symmetrical muscle weakness, atrophy, and paralysis in the proximal extremity and trunk. SMN1 is the main pathogenic gene of SMA. 95% of SMA patients show homozygous deletion of SMN1 in exon 7. The remaining 5% show heterozygous deletion of SMN1 in exon 7 and point mutation compound heterozygous deletion of SMN1.
Based on PCR melting curve method, Tianlong's Human Survival Motor Neuron 1 (SMN1) Gene Detection Kit is used for detecting the copy number of SMN1 in exon 7 and exon 8 of human genomic DNA. This kit is suitable for the auxiliary diagnosis of SMN1 patients and screening SMN1 gene carriers.
Features
*Quality Performance
Ability to differentiate between 0, 1, and ≥2copies for SMN1 in exon 7 and exon 8, detection of SMA carrier and SMA patients
*Optimized Workflow
DNA-to-data in 2-3 hours with only 60 minutes of hands-on-time
*Reduced Complexity
Tianlong Gentier 96E automates the original data into multiple melting curve analysis software for data analysis
*Low Sample Concentration
The minimum sample detection concentration of the kit is 10ng/μL
*High Precision
The coefficient of variation (CV,%) of the R value is ≤ 6%
*More Accessible
CE and NMPA marked, accessible for more counties
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