Survival Motor Neuron 1 (SMN1) Gene Real-Time PCR Detection Kit

Introduction

Spinal Muscular Atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene, which is responsible for encoding the survival motor neuron (SMN) protein. The SMN1 gene is essential for producing the SMN protein required to maintain the normal function of motor neurons. Without a sufficient amount of this protein, motor neurons degenerate, causing progressive loss of muscle movement control. Generally, the earlier the onset of the disease, the more severe the symptoms. Without early detection and treatment, SMA can lead to premature death.

The global incidence of SMA is approximately 1 in 10,000 live births (or ~7.8 to 10 per 100,000 births). The disease can manifest from infancy to adulthood, with an incidence rate of 1/10,000 to 1/6,000 and a carrier rate of 1/60 to 1/40. Statistics show that about 95% of SMA patients have a homozygous deletion of exon 7 and/or 8 of the SMN1 gene. Access to preconception carrier screening, prenatal diagnosis, and advanced reproductive technologies can reduce the incidence of SMA in various regions of the world.

The BioPerfectus SMN1 Gene Real-Time PCR Detection Kit is intended for the in vitro qualitative detection of exon 7 and/or exon 8 deletions in the SMN1 gene and for determining the SMN1 copy number in these exons, using EDTA-anticoagulated human blood samples.

Features

• Comprehensive Coverage: Identifies the status of patients, carriers, and normal individuals

• Cost-benefit: PCR technology platform with higher detection capacity and lower cost

• ∆∆CT Method: Eliminates dilution errors common in standard curve construction