Clinical Application

Spinal Muscular Atrophy (SMA), which is an autosomal recessive disorder. When two carriers of the SMA mutation have a child, there will be 50% chance the child will be a carrier and a 25% chance that the child will suffer from SMA. Therefore, the detection of the SMA gene is very necessary. Currently about 1/50 people are carriers for SMA, incidence > 1/6000. Treatment costs more than $1 million. Studies have shown that the use of qpcr method to detect the SMA gene is significantly better than MLPA and NGS. Not only is it faster to get results, but it also has a lower economic cost of hygiene.

Intended Use

The Spinal Muscular Atrophy Genetic Testing Kit (PCR-Fluorescence Probing) is intended for in vitro quantitative detection of copy number of SMN1 gene which causes SMA.

General Specification