The IVD-TEST SMN reagent kit is designed to determine the presence of a deletion 7 exon of the SMN1 gene of human genomic DNA for the purpose of diagnosing spinal muscular atrophy associated with this deletion (SMA) by PCR method with detection of the result using melting curves.
The IVD-TEST SMN reagent kit can be used in clinical laboratory diagnostics for the purpose of neonatal screening of newborns to detect congenital pathology, associated with spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a severe neuromuscular disease with an autosomal recessive mode of inheritance, which develops as a result of homozygous (less often - compound heterozygous) pathogenic variants in the SMN1 gene and is characterized by the steady degeneration of motor neurons in the spinal cord and brain stem, which causes the development of progressive muscle atrophy and flaccid paresis.
The need for timely diagnosis of the disease is determined by the criticality of the time of initiation of therapy: Using medications before symptoms appear allows for maximum effectiveness of therapy, and if the disease has already begun to manifest itself, the effect of therapy will be less pronounced.
Real-time polymerase chain reaction with melting curve detection allows reliably determining the presence or absence of a deletion 7 exon of the SMN1 gene, regardless of the presence and number of copies of the SMN2 gene. This method is based on PCR using fluorescently labeled probes, hybridizing differently on the amplification products of the SMN1 and SMN2 genes. Each of the resulting duplexes is characterized by a range of their melting temperatures (denaturation temperature), by which a conclusion is made about the presence or absence of a site amplification product 7 exon of the SMN1 gene, i.e.. about the presence or deletion of the 7 exon.
KEY FEATURES
- The kit allows you to unambiguously interpret the results as the presence or absence of a deletion 7 exon of the SMN1 gene
- The kit is designed to work with isolated DNA, including. from dried blood stains
- Sensitivity from 1 ng genomic DNA in reaction
- Time of the study 2 hour
- Software, allowing you to automatically export research results to Excel tables when working on DNA-Technology “DT96” amplifiers
NORM OPTION
PATHOLOGY
