Aim of the kit is giving the chance of early detection of carrier and homozygous SMN1 & NAIP within 70 minutes from blood and 85 minutes from DBS, which could meet the need of screening in the newborn babies and premarital couples rapidly and easily. By this way, it will be possible to provide early treatment and protection from neuronal loss seen within the first six months in infants with SMA. 

When SMN1 carrier infants are detected in the newborn screening program, their parents could be enrolled to pre-pregnancy screening. All identified carrier’s parents should be referred to follow-up genetic counseling for a discussion of risk to the fetus or future pregnancies.

Identification of all carrier newborn babies and their carrier parents will reduce the burden of medical expenses for SMA diseases on the national budget. Prenatal and pre-implantation genetic diagnosis should be offered to the carrier couples. It gives the opportunity to decrease the number of SMA patients and treatment costs.

It is also possible to detect the compound heterozygous for SMN1. The detected carriers with one deleted SMN1 allele will be sequenced to define whether or not the other allele is containing subtle intragenic mutations. By the way, the potential patients will be explored for SMA disease.

Many studies have suggested that SMA patients with a deletion in NAIP show more-severe symptoms, but the direct role of NAIP has not been fully investigated.

Detection of NAIP deletions, homozygous and/or carrier provides early warning about the deleterious effects on the neurological diseases.