SMN1 Exon7/8 Screening Kit
£815.00
The geneMAP™ SMN1 Exon7/8 Deletion Screening Kit is a diagnostic tool designed for the rapid and cost-effective analysis of deletions in Exon 7 and Exon 8 of the SMN1 gene, which are indicative of Spinal Muscular Atrophy (SMA). Utilizing TaqMan probe-based CNV (Copy Number Variation) analysis and compatible with three-color real-time PCR instruments (FAM, VIC/HEX, and ROX), this CE-IVD certified kit facilitates accurate screening for one of the most common genetic causes of muscle weakness and atrophy.
The geneMAP™ SMN1 Exon7/8 Deletion Screening Kit is a diagnostic tool designed for the rapid and cost-effective analysis of deletions in Exon 7 and Exon 8 of the SMN1 gene, which are indicative of Spinal Muscular Atrophy (SMA). Utilizing TaqMan probe-based CNV (Copy Number Variation) analysis and compatible with three-color real-time PCR instruments (FAM, VIC/HEX, and ROX), this CE-IVD certified kit facilitates accurate screening for one of the most common genetic causes of muscle weakness and atrophy.
- Rapid and Cost-Effective: Specifically designed for quick deletion analysis of the SMN1 gene, optimizing both time and expense.
- TaqMan Probe-Based CNV Analysis: Ensures accurate results through quantitative fluorescence real-time PCR and CNV analysis using the Comparative Ct Method.
- Compatibility: Works with FAM, VIC/HEX, and ROX three-color real-time PCR instruments, broadening its applicability.
- CE-IVD Certification: Meets European standards for in vitro diagnostic medical devices, guaranteeing reliability and quality.
- Accurate Detection of SMA: By focusing on Exon 7 and 8 deletions in the SMN1 gene, the kit provides reliable identification of SMA, facilitating early diagnosis and intervention.
- Ease of Use: Simplified procedure allows for straightforward and efficient testing, making it accessible to various laboratory settings.
- Broad Instrument Compatibility: Designed to be used across a variety of real-time PCR platforms, enhancing its utility in diverse diagnostic environments.
- SMA Screening and Diagnosis: Essential for the detection of SMN1 exon deletions, providing critical information for diagnosing Spinal Muscular Atrophy.
- Genetic Counseling: Plays a significant role in carrier testing and genetic counseling, especially given the high carrier frequency of SMA in the population.
- Technology: Utilizes allele-specific quantitative fluorescence real-time PCR for Copy Number Variation (CNV) analysis based on the Comparative Ct Method.
- Target Analysis: Specifically designed for the analysis of deletions in Exon 7 and/or Exon 8 of the SMN1 gene.
- Compatibility: Suitable for use with real-time PCR instruments capable of detecting FAM, VIC/HEX, and ROX.
- Certification: Carries the CE-IVD mark, indicating its approved use within the European Union for in vitro diagnostics.
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