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当前位置: 首页 > 产品中心 > peptide > asuragen/AmplideX®PCR/CESMN1/2Plus试剂盒/50/A00050
商品详细asuragen/AmplideX®PCR/CESMN1/2Plus试剂盒/50/A00050
asuragen/AmplideX®PCR/CESMN1/2Plus试剂盒/50/A00050
asuragen/AmplideX®PCR/CESMN1/2Plus试剂盒/50/A00050
商品编号: A00050
品牌: asuragen
市场价: ¥0.00
美元价: 0.00
产地: 美国(厂家直采)
公司:
产品分类: 多肽合成
公司分类: peptide
联系Q Q: 3392242852
电话号码: 4000-520-616
电子邮箱: info@ebiomall.com
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QuantideX®qPCR BCR-ABL次要试剂盒(RUO)BCR-ABL血液癌细胞该QuantideX ® qPCR的BCR-ABL轻微套件(RUO)是临床研究工具,使超灵敏和精确的检测BCR-ABL1从全血标本轻微融合基因(e1a2)。在简单的工作流程和最佳的一流的灵敏度与确立的全面建设FDA批准QuantideX ® qPCR的BCR-ABL IS套装,小工具允许实验室和临床研究人员研究疾病的生物学这一非常罕见的,但不同白血病变异与前所未有的轻松。特点与优势分析特性订购方式特点与优势QuantideX qPCR BCR-ABL次要试剂盒(RUO)通过无与伦比的灵敏度和优化的实验室效率提供了高性能。降低复杂性易于数据分析和报告:充分利用了QuantideX ® qPCR的BCR-ABL IS套装的工作流程概念简化实施随附的软件可自动计算BCR-ABL1 / ABL1%比率,无需手动计算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:多重设计可在同一反应中扩增并检测融合基因和对照基因单一供应商共同采购和控制质量的全包试剂预混试剂可减少预混液的移液步骤通过高灵敏度的检测方法可靠,可靠地检测 BCR-ABL1次要转录本的质量表现:超灵敏的检测下限(LOD):对数减少4.61(比率为0.0025%)在不影响分析特异性的情况下提高分析灵敏度:结合了空白限度(LOB)以防止误判非白血病低阳性基于铠装RNA®的标准品可提供真正的RNA定量