Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). SMN1 is primarily responsible for making survival motor neuron (SMN) protein, which is required for maintaining normal, motor neuron function. Without enough SMN protein, motor neurons will degenerate, causing progressive loss of controlled muscle movement. Typically, the earlier the onset of the disease, the more severe the symptoms. Without early detection and treatment, SMA can also result in premature death.

The worldwide incidence of SMA is ~1 in 10,000 live births or ~7.8–10 in 100,000 live births. Besides, the age of onset of this disease is possible from infant to adult, its incidence rate is 1/10000~1/6000, and the population carrying rate is 1/60~1/40. According to statistics, about 95% of SMA patients showed homozygous deletion of exon 7 and/or 8 of SMN1 gene. Access to preconception carrier screening, prenatal diagnosis and application of advanced reproductive technologies is likely to lower the incidence of SMA in many parts of the world. 

The BioPerfectus Survival motor neuron 1(SMN1) Gene Detection Real Time PCR Kit is intended for the in-vitro qualitative detection of Survival motor neuron 1 (SMN1) exon 7 and(or) exon 8 deletions and the copy number of SMN1 at the 7th exon and (or) the 8th exon in human EDTA anticoagulated blood samples.

1. Comprehensive Coverage: Clarifying the status of patients, carriers, and normal individuals
2. Cost-effective: PCR technology platform, more detection and low cost
3. ∆∆CT Method: Eliminating the dilution errors that occur when creating a standard curve

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Reference:

- Mercuri, E., Sumner, C.J., Muntoni, F. et al. Spinal muscular atrophy. Nat Rev Dis Primers 8, 52 (2022). http://doi-org.ypl.ilibs.cn/10.1038/s41572-022-00380-8

- Ogino, S., Leonard, D. G., Rennert, H., Ewens, W. J. & Wilson, R. B. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am. J. Med. Genet. 110, 301–307 (2002).

- Sugarman, E. A. et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur. J. Hum. Genet. 20, 27–32 (2012).

- https://www.cdc.gov/nceh/dls/nsmbb_sma.html