INOVIA™ INOGene-SMA PCR Detection Kit, 50 reactions

INOVIA™ INOGene-SMA PCR Detection Kit, 50 reactions

Spinal Muscular Atrophy (SMA) is a neurodegenerative, monogenic, and autosomal recessive disease that occurs by decreasing SMN protein levels in motor neurons depending on a single nucleotide mutation in the SMN1 gene.

SMA can be seen by the ratio of 1/10000 and depending on its type it can result in death, life-long disability, and muscular atrophy because of the death of motor neurons in the body. Classificication of SMA is shown in the table below.

Nucleic acid extraction can be performed from whole blood samples with any commercial DNA isolation/extraction kits.

The Kit provides detection of the single nucleotide mutation occurs in the 840th base which causes skipping exon 7 and thus, spinal muscular atrophy.

This single nucleotide change in the exon 7 is detected by using specially designed oligonucleotides and MGB tagged probes.

The curves and Ct values of FAM, HEX, and CY5 fluorophores are analyzed at the end of real-time PCR to determine homozygous and heterozygous mutations in the individual.

Contents

• Reaction mix
• Primer probe mix
• Negative control
• Positive control.