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℡ 4000-520-616
℡ 4000-520-616
asuragen/AmplideX® PCR/CE SMN1/2 Plus Kit/50/A00050
产品编号:A00050
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产品分类: 蛋白类>多肽>多肽合成>
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asuragen/AmplideX® PCR/CE SMN1/2 Plus Kit/50/A00050
商品介绍

AmplideX® PCR/CE SMN1/2 Plus Kit

Copy number variations in SMN1 and SMN2 are, respectively, associated with the onset and severity of spinal muscular atrophy (SMA), a debilitating and life-threatening illness of the central nervous system. Recent studies have demonstrated that transmission risk and disease severity may be impacted by the presence of additional variants, such as SMN1 gene duplication events and disease modifier in SMN2.

The AmplideX® PCR/CE SMN1/2 Plus Kit* revolutionizes the analysis of these two genes by delivering comprehensive results in less than four hours. Powered by AmplideX technology, the assay accurately quantifies SMN1 and SMN2 exon 7 copy number and also detects SMN1 gene duplication and SMN2 disease modifier variants – all from a single reaction. The assay shares a common workflow with other assays in the AmplideX product portfolio and is optimized for use on widely established laboratory equipment.

Features & Benefits

Reduced Complexity
  • Similar workflow to AmplideX PCR/CE FMR1*† kit eases implementation and training
  • Multiplexed, scalable design allows analysis of single-nucleotide variants, small indels, and copy-number changes from a single PCR reaction
  • Assay-specific software automates variant calls and streamlines data analysis
Optimized Workflow
  • DNA-to-data in less than four hours with only 60 minutes of hands-on-time
  • Optimized for use on commonly installed CE equipment
  • Fully-kitted solution sourced from a single vendor
Quality Results
  • Ability to differentiate between 0, 1, 2, 3 and ≥4 copies for both SMN1 and SMN2
  • Automated variant and copy-number genotyping
  • Accuracy demonstrated through comparisons with multiple orthogonal methods

Download Brochure

*For Research Use Only. Not for use in Diagnostic procedures.

Analytical Performance

  • Automated reporting of SMN1/2 copy number and variant detection via AmplideX Reporter Software (Figure 1)
  • DNA to data in less than four hours – all from a single PCR reaction (Figure 2)
  • Excellent concordance of SMN1 and SMN2 copy number results to sites’ in-house methods for over 500 replicates (Figure 3)
  • High assay specificity permits detection of SMN1–SMN2 hybrid peaks, including those resulting from gene conversion events (Figure 4)
  • 100% agreement between Sanger sequencing and PCR/CE SMN1/2 Plus Kit for detection of SMN1 gene duplication and SMN2 disease modifier variants (Figure 5).

Figure 1. Example Electropherogram Output – AmplideX PCR/CE SMN1/2 Plus Kit

Figure 2. AmplideX PCR/CE SMN1/2 Plus Kit Testing Workflow

Figure 3. Reproducibility of SMN1 and SMN2 copy number reporting across sites for over 500 replicates.

Figure 4. Detection and differentiation of SMN1 and SMN2 hybrid peaks.

Figure 5. Agreement between AmplideX PCR/CE SMN1/2 Plus Kit and Sanger sequencing for SMN1 gene duplication and SMN2 disease modifier variants

Additional Resources

Videos

View poster

View poster

From Two Days to Four Hours: How the AmplideX PCR/CE SMN1/2 Plus Kit Provides SMN1 and SMN2 Copy Number Information and More…

Posters

A Rapid Diagnostic and Screening System for Spinal Muscular Atrophy that Reports Copy Number Changes, Single Nucleotide Variants and Small IndelsView Full Poster

Ordering Information

Product NameNumber of ReactionsCatalog Number
AmplideX® PCR/CE SMN1/2 Plus Kit (RUO)50A00050
AmplideX® PCR/CE SMN1/2 Plus Kit (RUO)100A00054

T 1-877-777-1874; 512-681-5200 F 512-681-5202 E orders@asuragen.com

View Sales Contacts

AmplideX® SMA Plus Kit

The AmplideX® SMA Plus Kit* is an in vitro nucleic acid amplification kit intended to aid in the screening of carriers for and diagnosis of spinal muscular atrophy (SMA). The kit quantifies the number of copies of exon 7 of both SMN1 and SMN2 reported as 0, 1, 2, 3, or ≥ 4 genomic copies. The kit is designed for PCR with extracted genomic DNA from human whole blood performed on standard laboratory-validated thermal cyclers, followed by resolution on a general laboratory-validated genetic analyzer or capillary electrophoresis (CE) platform.  Additionally, the kit identifies chimeric genes with both SMN1 and SMN2 sequences, and detects variants SMN1 c.*3+80T>G and SMN1 c.*211_*212del, which are associated with SMN1 gene duplication and “silent carrier” status, as well as variant SMN2 c.859G>C, which is associated with a milder disease phenotype.

Disease Background

  • General Information
    • SMA is a debilitating illness resulting from the deficient production of motor neurons in the central nervous system and is a leading genetic cause of infant death.
    • It is transmitted via an autosomal recessive inheritance pattern
  • Diagnosing SMA
    • SMA is diagnosed when no functional copies of the SMN1 gene are present
    • Disease severity is inversely correlated to the number of SMN2 copies present
    • Life-saving treatments must be started early, so rapid delivery of diagnostic test results is critical
  • Carrier Screening
    • Approximately 1 in 50 individuals is a carrier of SMA
    • clinical advisory committees (American College of Medical Genetics (ACMG), American College of Obstetrics and Gynecology (ACOG)) recommend screening be available to all couples regardless of ethnicity

Features & Benefits

Reduced ComplexityEase of data analysis and reporting

  • One kit to identify SMA patients, carriers (including detection of variants associated with silent carriers), and refine disease prognosis – all from a single PCR reaction
  • Similar workflow to AmplideX PCR/CE FMR1*† kit eases implementation and training
  • Assay-specific software automates results reporting and streamlines data analysis

Optimized WorkflowReduces valuable operator hands-on-time and overall turnaround time

  • Diagnostic and screening results are reported in less than four hours with only 60 minutes of hands-on-time
  • Scalable workflow supports high sample throughput testing
  • Optimized for use on widely installed CE equipment
  • Fully-kitted solution sourced from a single vendor

Quality PerformanceComprehensive analysis of SMN1 and SMN2 genes for the diagnosis and screening of SMA

  • High resolution of SMN1/2 copy number across a broad range improves accuracy in identifying SMA patients and carriers
  • Excellent concordance of copy number and variant results compared to multiple orthogonal test methods

Download Brochure

*For Research Use Only. Not for use in Diagnostic procedures.

Analytical Performance

  • Automated and streamlined reporting of SMN1 and SMN2 copy number and variant detection via AmplideX Reporter Software (Figure 1)
  • Provide critical test results from a single reaction — and all in less than four hours (Figure 2)
  • Excellent concordance of SMN1 and SMN2 copy number results to sites’ in-house methods for over 400 replicates (Figure 3)
  • High assay specificity permits detection of SMN1–SMN2 hybrid peaks, including those resulting from gene conversion events (Figure 4)
  • 100% agreement observed between Sanger sequencing and AmplideX SMA Plus Kit for detection of SMN1 gene duplication and SMN2 disease modifier variants (Figure 5).

Figure 1.  Example Electropherogram Output for the AmplideX SMA Plus Kit

Figure 2.  AmplideX SMA Plus Kit Testing Workflow

Figure 3.  Excellent reproducibility of SMN1 and SMN2 copy number reporting across sites for over 400 replicates

Figure 4.  Detection and identification of SMN1 and SMN2 “hybrid peaks”

Figure 5. Agreement between AmplideX SMA Plus Kit and Sanger sequencing for SMN1 gene duplication (“silent carrier”) and SMN2 disease modifier variants

Additional Resources

Videos

Analytical validation of a multiplex PCR/CE assay for simultaneous determination of SMN1/SMN2 exon 7 copy number and variant status (Milligan J, et al).  Presented at ESHG 2020.2 Virtual Conference.

Looking Beyond Copy Number, Part 2:  Rapid, Comprehensive, and Complete SMN1/2 Profiling with the AmplideX® SMA Plus Kit + Q&A (Lemmink H, et al).  Presented at ESHG 2020.2 Virtual Conference.

Ordering Information

Product NameNumber of ReactionsCatalog Number
AmplideX® SMA Plus Kit50A00055
AmplideX® SMA Plus Kit100A00056

T 1-877-777-1874; 512-681-5200 F 512-681-5202 E orders@asuragen.com

View Sales Contacts
品牌介绍

asuragen的AmplideX®PCR / CE C9orf72试剂盒

C9orf72主网页图像小AmplideX PCR / CE C9orf72试剂盒(RUO)是用于检测C9orf72基因中GGGGCC重复序列的研究产品。这些试剂提供了基于重复引物PCR(RP-PCR)设计的单管PCR方法,以分析C9orf72基因中的重复序列  。


 


特点与优势

分析特性

订购方式

特点与优势

Asuragen已经建立了市场领先的技术,可以可靠地扩增和分析FMR1基因中CGG三联体重复序列。AmplideX PCR / CE C9orf72 试剂盒(RUO)是该技术向神经遗传学领域的扩展。该试剂盒为临床和药学研究人员提供了一种可靠且可重现的方法,可用于C9orf72基因中六核苷酸重复扩增的高分辨率基因分型  ,这对额颞叶痴呆(FTD)引起了越来越多的关注。疾病-肌萎缩性侧索硬化症(ALS)。



通过以下方法简化了 C9orf72基因的复杂度分析:


实施专有的二合一PCR解决方案以扩增富含GC的区域

单一来源的试剂盒,包含C9orf72  重复扩增所需的所有PCR试剂

简化的工作流程,动手时间最短

优化的工作流程

通过以下方式大大减少了宝贵的操作员动手时间:


单一PCR反应可用于上浆和筛选

直接将PCR产物注入(无需PCR清理)到毛细管电泳平台

减少对Southern blot分析的需求

质量绩效

执行C9orf72一个具有更高的灵敏度和准确度nalysis:


等位基因大小的长度提高了五倍:精确定量多达145个重复序列

检测到大于145个重复的等位基因

揭示低水平的镶嵌和次要等位基因


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