
The geneMAP™ SMN1 Exon 7/8 Deletion Screening Kit is an in vitro nucleic acid amplification test designed to assist in the screening of spinal muscular atrophy (SMA) carriers and the diagnosis of SMA. SMA is a severe central nervous system disorder and a leading genetic cause of infant mortality. Most carriers possess only one copy of the SMN1 gene. Approximately 94% of SMA patients lack both copies of SMN1 Exons 7 and 8, which can be detected using standard molecular analyses. Due to the high carrier frequency in the population, carrier testing for SMA plays a crucial role in genetic counseling.
Size: 50 tests
Features
- Designed for rapid and cost-effective deletion analysis of the SMN1 gene (Exons 7 and 8).
- Ensures accurate results using TaqMan probe-based CNV analysis and the comparative Ct method.
- Offers automated data analysis on the Bio-Rad CFX96 instrument.
- CE-IVD
- Real-time PCR
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