SMN1 Gene Detection Kit-P124H for screening SMN1 gene carriers in spinal muscular atrophy

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 7^th and/or 8^th exons in human genomic DNA using the PCR melting curve method. It is appropriate for identifying SMN1 gene carriers in spinal muscular atrophy.

Features

Reduced complexity

For data analysis, Tianlong Gentier96E/R streamlines the original data into multiple melting curve analysis software.

Quality performance

Ability to distinguish between 0, 1, and >2 copies for SMN1 in exon 7 and exon 8, identification of SMA carrier and SMA patients.

Optimized workflow

DNA-to-data in 2–3 hours with only 60 minutes of hands-on time

High precision

The R value’s coefficient of variation (CV%) is 6%.

Low sample concentration

The kit’s minimum sample detection concentration is 10 ng/μL.

More accessible

CE and NMPA marked, and more countries can access them.

Product information

Source: Xi'an Tianlong Science & Technology Co., Ltd