MicroreaderTM Human SMN1/SMN2 gene exon deletion Detection Kit

Spinal muscular atrophy (SMA) is the most common fatal autosomal recessive genetic disease in infants and young children, with a carrier rate of about 1/50 in the population. The clinical manifestations are progressive, symmetrical, proximal limb muscle weakness and muscle atrophy, and are divided into types 0-IV according to the time of onset and clinical manifestations. About 95% of SMA patients are caused by homozygous deletion of exon 7 of SMN1, and the copy number of SMN2 affects the prognosis of the disease. The kit uses fluorescent PCR-capillary electrophoresis to detect the copy numbers of SMN1 and SMN2 and the SNP loci related to "2+0" carriers, which can accurately distinguish healthy people, carriers and patients, and is used for SMA carriers Screening and auxiliary diagnosis of patients.