SMN1 Exon7/8 Deletion Screening Kit

Real-time
PCR

CE-IVD

-Desin for rapid and cost effective deletion analysis on SMN1 gene(Exon 7 and 8)

-Accurate results with TaqMan probe based CNV analysis and comparative Ct method.

-Automated analysis with the Biorad CFX96 Instrument.

INTENDED USE

geneMAP™ SMN1 Exon7/8 Deletion Screening Kit is an in vitro nucleic acid amplification kit intended to aid in the screening of carriers of and diagnosis of spinal muscular atrophy (SMA).

Spinal muscular atrophy (SMA) is a debilitating illness of the central nervous system and is a leading genetic cause of infant death. 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.