geneMAP™ SMN1 Exon7/8 Deletion Screening Kit (SMN1M-RT50)
FEATURES
- Design for rapid and cost effective deletion analysis on SMN1 gene ( Exon7 and 8)
- Accurate results with TaqMan probe based CNV analysis
- Compatible with FAM and VIC/HEX and ROX Three Color Real-Time PCR Instruments
- CE-IVD
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. Poor weight gain with growth failure, restrictive lung disease, scoliosis, joint contractures, and sleep difficulties are common complications. SMA is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (SMN1). Since most carriers have only one SMN1 gene copy. Approximately 94% of SMA patients lack both copies of SMN1 exon 7 & 8, which can be detected by the commonly used molecular analyses . As the carrier frequency in population is high, the carrier test for SMA is important issue in genetic counseling.
geneMAP™ SMN1 Exon7/8 Deletion Screening Kit is based on allele specific quantitative fluorescence real-time PCR following Copy Number Variation (CNV) analysis by using Compherative Ct Method. The kit consists of one assay for a single analysis of Exon 7 and/or Exon 8 deletions of the SMN1 gene.