An autosomal recessive genetic disease—spinal muscular atrophy (SMA)—is marked by degeneration of motor neurons in the spinal cord’s anterior horn. The clinical implications are symmetrical and progressive muscle weakness, atrophy, and paralysis in the proximal extremity and trunk.
The primary pathogenic gene of SMA is SMN1, and SMN2 is a regulatory gene. A total of 95% of SMA patients exhibited homozygous deletion of exon 7 and/or 8 of the SMN1 gene, and the rest of the 5% patients exhibited heterozygous deletion of exon 7 of SMN1 and point mutation compound heterozygous deletion of SMN1.
Tianlong Human Survival Motor Neuron 1 (SMN1) Gene Detection Kit detects the copy number of SMN1 at the 7th and/or 8th exons in human genomic DNA using the PCR melting curve method. It is appropriate for identifying SMN1 gene carriers in spinal muscular atrophy.
For data analysis, Tianlong Gentier96E/R streamlines the original data into multiple melting curve analysis software.
Ability to distinguish between 0, 1, and >2 copies for SMN1 in exon 7 and exon 8, identification of SMA carrier and SMA patients.
DNA-to-data in 2–3 hours with only 60 minutes of hands-on time
The R value’s coefficient of variation (CV%) is 6%.
Low sample concentration
The kit’s minimum sample detection concentration is 10 ng/μL.
CE and NMPA marked, and more countries can access them.
Source: Xi'an Tianlong Science & Technology Co., Ltd
||Human Survival Motor Neuron 1 (SMN1) Gene Detection Kit (PCR-Melting Curve Method)
||EDTA anticoagulant whole blood sample
|Storage & Validity
||-25 °C~-15 °C for 10 months
||Roche Light Cycler 480, Tianlong Gentier 96E/96R real time PCR system