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Search </a> </div> </div> </header> <div class="masthead-none"></div> <div class="breadcrumbs"> <div class="bound-layout"> <nav> <a href="https://asuragen.com">Home</a><a href="https://asuragen.com/portfolio/">Portfolio</a><a href="https://asuragen.com/portfolio/genetics/">Kitted Assays for Inherited Genetic Disorders</a><a>AmplideX® PCR/CE <em>SMN1/2</em> Plus Kit</a> </nav> </div> </div> <div class="bound-layout layout-sidebar"> <div class="content"> <div class="solutions-detail"> <div class="solution-description" id="solution-us"> <h1>AmplideX® PCR/CE <em>SMN1/2</em> Plus Kit</h1> <p><img loading="lazy" decoding="async" class="wp-image-191911 aligncenter" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_387,h_334/https://asuragen.com/wp-content/uploads/2019/12/smn1-2-plus-image-1-1024x883.png" alt="" width="387" height="334" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024/https://asuragen.com/wp-content/uploads/2019/12/smn1-2-plus-image-1-1024x883.png 1024w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_300/https://asuragen.com/wp-content/uploads/2019/12/smn1-2-plus-image-1-300x259.png 300w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_768/https://asuragen.com/wp-content/uploads/2019/12/smn1-2-plus-image-1-768x662.png 768w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1110/https://asuragen.com/wp-content/uploads/2019/12/smn1-2-plus-image-1.png 1110w" sizes="auto, (max-width: 387px) 100vw, 387px" /></p> <p>Copy number variations in <em>SMN1</em> and <em>SMN2</em> 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 <em>SMN1</em> gene duplication events and disease modifier in <em>SMN2</em>.</p> <p>The AmplideX<sup>®</sup> PCR/CE <em>SMN1/2</em> 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 <em>SMN1</em> and <em>SMN2</em> exon 7 copy number and also detects <em>SMN1</em> gene duplication and <em>SMN2</em> 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.</p> <p><a class="btn -large -underline" href="#order" rel="noopener">Order the AmplideX PCR/CE SMN1/2 Plus Kit</a></p> <nav class="solutions-nav stacked"> <a href="#us-2">Features & Benefits</a> <a href="#us-3">Analytical Performance</a> <a href="#us-4">Additional Resources</a> <a href="#us-5">Order Now</a> <a href="#us-6">Ordering Information</a> </nav> <div id="us-2" class="solutions-detail-content"> <h3 class="solution-subtitle">Features & Benefits</h3> <h5>Reduced Complexity</h5> <ul> <li>Similar workflow to AmplideX PCR/CE FMR1*† kit eases implementation and training</li> <li>Multiplexed, scalable design allows analysis of single-nucleotide variants, small indels, and copy-number changes from a single PCR reaction</li> <li>Assay-specific software automates variant calls and streamlines data analysis</li> </ul> <h5>Optimized Workflow</h5> <ul> <li>DNA-to-data in less than four hours with only 60 minutes of hands-on-time</li> <li>Optimized for use on commonly installed CE equipment</li> <li>Fully-kitted solution sourced from a single vendor</li> </ul> <h5>Quality Results</h5> <ul> <li>Ability to differentiate between 0, 1, 2, 3 and ≥4 copies for both <em>SMN1</em> and <em>SMN2</em></li> <li>Automated variant and copy-number genotyping</li> <li>Accuracy demonstrated through comparisons with multiple orthogonal methods</li> </ul> <p><a href="http://asuragen.com/wp-content/uploads/2021/03/AmplideX-SMN1_2-Plus-Product-Brochure.pdf" target="_blank" rel="noopener"><img loading="lazy" decoding="async" class="alignleft wp-image-2980" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_135,h_69/https://asuragen.com/wp-content/uploads/2016/07/Download-Brochure-Button_Blue.png" alt="Download Brochure" width="135" height="69" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_309/https://asuragen.com/wp-content/uploads/2016/07/Download-Brochure-Button_Blue.png 309w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_300/https://asuragen.com/wp-content/uploads/2016/07/Download-Brochure-Button_Blue-300x152.png 300w" sizes="auto, (max-width: 135px) 100vw, 135px" /></a></p> <p> </p> <p> </p> <p> </p> <p>*For Research Use Only. Not for use in Diagnostic procedures.</p> </div> <div id="us-3" class="solutions-detail-content"> <h3 class="solution-subtitle">Analytical Performance</h3> <ul> <li>Automated reporting of <em>SMN1/2</em> copy number and variant detection via AmplideX PCR/CE <em>SMN1/2</em> Plus Analysis Module (<strong>Figure 1</strong>)</li> <li>DNA to data in less than four hours – all from a single PCR reaction (<strong>Figure 2</strong>)</li> <li>Excellent concordance of <em>SMN1</em> and <em>SMN2</em> copy number results to sites’ in-house methods for over 500 replicates (<strong>Figure </strong><strong>3)</strong></li> <li>High assay specificity permits detection of <em>SMN1–SMN2</em> hybrid peaks, including those resulting from gene conversion events (<strong>Figure 4)</strong></li> <li>100% agreement between Sanger sequencing and PCR/CE <em>SMN1/2</em> Plus Kit for detection of <em>SMN1</em> gene duplication and <em>SMN2</em> disease modifier variants (<strong>Figure 5)</strong>.</li> </ul> <p> </p> <p><strong>Figure 1.</strong> Example Electropherogram Output – AmplideX PCR/CE <em>SMN1/2</em> Plus Kit</p> <p><a href="https://asuragen.com/wp-content/uploads/2020/01/SMN1-2-Plus-Example_UPDATED.png"><img loading="lazy" decoding="async" class="aligncenter wp-image-191952 size-large" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024,h_350/https://asuragen.com/wp-content/uploads/2020/01/SMN1-2-Plus-Example_UPDATED-1024x350.png" alt="" width="1024" height="350" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024/https://asuragen.com/wp-content/uploads/2020/01/SMN1-2-Plus-Example_UPDATED.png 1024w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_300/https://asuragen.com/wp-content/uploads/2020/01/SMN1-2-Plus-Example_UPDATED-300x103.png 300w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_768/https://asuragen.com/wp-content/uploads/2020/01/SMN1-2-Plus-Example_UPDATED-768x263.png 768w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></a></p> <p> </p> <p><strong>Figure 2.</strong> AmplideX PCR/CE <em>SMN1/2 </em>Plus Kit Testing Workflow<br /> <a href="https://asuragen.com/wp-content/uploads/2019/12/Workflow-SMN1_2_Plus.png"><img loading="lazy" decoding="async" class="aligncenter wp-image-191926 size-large" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024,h_221/https://asuragen.com/wp-content/uploads/2019/12/Workflow-SMN1_2_Plus-1024x221.png" alt="" width="1024" height="221" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024/https://asuragen.com/wp-content/uploads/2019/12/Workflow-SMN1_2_Plus-1024x221.png 1024w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_300/https://asuragen.com/wp-content/uploads/2019/12/Workflow-SMN1_2_Plus-300x65.png 300w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_768/https://asuragen.com/wp-content/uploads/2019/12/Workflow-SMN1_2_Plus-768x166.png 768w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></a></p> <p> </p> <p><strong>Figure 3. </strong>Reproducibility of <em>SMN1</em> and <em>SMN2</em> copy number reporting across sites for over 500 replicates.<br /> <a href="https://asuragen.com/wp-content/uploads/2020/01/Figure-2-SMN1-2-Plus-Reproducibility-1.png"><img loading="lazy" decoding="async" class="aligncenter wp-image-191994 size-large" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024,h_576/https://asuragen.com/wp-content/uploads/2020/01/Figure-2-SMN1-2-Plus-Reproducibility-1-1024x576.png" alt="" width="1024" height="576" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024/https://asuragen.com/wp-content/uploads/2020/01/Figure-2-SMN1-2-Plus-Reproducibility-1-1024x576.png 1024w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_300/https://asuragen.com/wp-content/uploads/2020/01/Figure-2-SMN1-2-Plus-Reproducibility-1-300x169.png 300w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_768/https://asuragen.com/wp-content/uploads/2020/01/Figure-2-SMN1-2-Plus-Reproducibility-1-768x432.png 768w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1179/https://asuragen.com/wp-content/uploads/2020/01/Figure-2-SMN1-2-Plus-Reproducibility-1.png 1179w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></a></p> <p><strong>Figure 4.</strong> Detection and differentiation of <em>SMN1</em> and <em>SMN2</em> hybrid peaks.</p> <p><a href="https://asuragen.com/wp-content/uploads/2020/01/Figure-3-SMN1-2-Hybrid-Peaks.png"><img loading="lazy" decoding="async" class="aligncenter wp-image-191985 size-large" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024,h_563/https://asuragen.com/wp-content/uploads/2020/01/Figure-3-SMN1-2-Hybrid-Peaks-1024x563.png" alt="" width="1024" height="563" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024/https://asuragen.com/wp-content/uploads/2020/01/Figure-3-SMN1-2-Hybrid-Peaks-1024x563.png 1024w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_300/https://asuragen.com/wp-content/uploads/2020/01/Figure-3-SMN1-2-Hybrid-Peaks-300x165.png 300w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_768/https://asuragen.com/wp-content/uploads/2020/01/Figure-3-SMN1-2-Hybrid-Peaks-768x422.png 768w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1480/https://asuragen.com/wp-content/uploads/2020/01/Figure-3-SMN1-2-Hybrid-Peaks.png 1480w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></a></p> <p><strong><br /> Figure 5.</strong> Agreement between AmplideX PCR/CE <em>SMN</em>1/2 Plus Kit and Sanger sequencing for <em>SMN</em>1 gene duplication and <em>SMN</em>2 disease modifier variants<br /> <a href="https://asuragen.com/wp-content/uploads/2020/02/SMN1-2-Plus-Variant-Detection.jpg"><img loading="lazy" decoding="async" class="aligncenter size-full wp-image-191997" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1895,h_797/https://asuragen.com/wp-content/uploads/2020/02/SMN1-2-Plus-Variant-Detection.jpg" alt="" width="1895" height="797" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1895/https://asuragen.com/wp-content/uploads/2020/02/SMN1-2-Plus-Variant-Detection.jpg 1895w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_300/https://asuragen.com/wp-content/uploads/2020/02/SMN1-2-Plus-Variant-Detection-300x126.jpg 300w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024/https://asuragen.com/wp-content/uploads/2020/02/SMN1-2-Plus-Variant-Detection-1024x431.jpg 1024w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_768/https://asuragen.com/wp-content/uploads/2020/02/SMN1-2-Plus-Variant-Detection-768x323.jpg 768w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1536/https://asuragen.com/wp-content/uploads/2020/02/SMN1-2-Plus-Variant-Detection-1536x646.jpg 1536w" sizes="auto, (max-width: 1895px) 100vw, 1895px" /></a></p> </div> <div id="us-4" class="solutions-detail-content"> <h3 class="solution-subtitle">Additional Resources</h3> <h5>Videos</h5> <p><iframe loading="lazy" src="https://player.vimeo.com/video/410234406?h=74e7d30297" width="640" height="360" frameborder="0" allowfullscreen="allowfullscreen"></iframe></p> <p>The AmplideX PCR/CE <em>SMN1/2</em> Plus Kit Illustrated</p> <p><iframe loading="lazy" src="https://player.vimeo.com/video/644915359?h=58b1cbbf2f" width="640" height="360" frameborder="0" allowfullscreen="allowfullscreen"></iframe></p> <p><span style="color: #ee7624;"><strong><a style="color: #ee7624;" href="http://asuragen.com/wp-content/uploads/2020/04/ACMG_Huiping_Final_e.pdf" target="_blank" rel="noopener noreferrer">View poster</a></strong></span></p> <p> </p> <div class="row-fluid"> <div class="span6 rhcol"> <p>From Two Days to Four Hours: How the AmplideX PCR/CE<em> SMN1/2</em> Plus Kit Provides <em>SMN1</em> and <em>SMN2</em> Copy Number Information and More…</p> </div> <div class="span6 rhcol"> <p><a href="https://info.bio-techne.com/WEB-ASU-2023-03-AMP-2019-Corporate-Workshop----AmplideX-PCRCE-SMN12-Plus-Kit-Video-6618_01-LP.html"><img loading="lazy" decoding="async" class="alignnone wp-image-193982 size-full" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_720,h_411/https://asuragen.com/wp-content/uploads/2023/02/how-the-amplidex-PCR-CE-SMN1-2-Plus-Kit-Provides-SMN1-and-SMN2-Copy-Number-Information-and-More.png" alt="" width="720" height="411" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_720/https://asuragen.com/wp-content/uploads/2023/02/how-the-amplidex-PCR-CE-SMN1-2-Plus-Kit-Provides-SMN1-and-SMN2-Copy-Number-Information-and-More.png 720w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_300/https://asuragen.com/wp-content/uploads/2023/02/how-the-amplidex-PCR-CE-SMN1-2-Plus-Kit-Provides-SMN1-and-SMN2-Copy-Number-Information-and-More-300x171.png 300w" sizes="auto, (max-width: 720px) 100vw, 720px" /></a></p> <p> </p> </div> </div> <h5>Posters</h5> <p>A Rapid Diagnostic and Screening System for Spinal Muscular Atrophy that Reports Copy Number Changes, Single Nucleotide Variants and Small Indels<br /> <a href="https://asuragen.com/wp-content/uploads/2019/11/AMP2019_Stela.pdf"><span style="color: #ee7624;">View Full Poster</span></a></p> </div> <div id="us-5" class="solutions-detail-content"> <h3 class="solution-subtitle">Order Now</h3> <p id="order">Contact Us Here To Order</p> <p><script src="https://info.bio-techne.com/js/forms2/js/forms2.min.js"></script></p> <form id="mktoForm_9635"></form> <p><script>MktoForms2.loadForm("//info.bio-techne.com", "584-XSF-168", 9635);</script></p> </div> <div id="us-6" class="solution-ordering"> <h3 class="solution-subtitle">Ordering Information</h3> <table class="order-table"> <thead> <tr> <th>Product Name</th> <th>Number of Reactions</th> <th>Catalog Number</th> </tr> </thead> <tbody> <tr> <td>AmplideX® PCR/CE <em>SMN1/2</em> Plus Kit (RUO)</td> <td>50</td> <td>A00050</td> </tr> <tr> <td>AmplideX® PCR/CE <em>SMN1/2</em> Plus Kit (RUO)</td> <td>100</td> <td>A00054</td> </tr> </tbody> </table> <div class="contact"> <div class="direct"> <p> <strong>T</strong> 1-877-777-1874; 512-681-5200 <br> <strong>F</strong> 512-681-5202 <br> </p> </div> </div> </div> </div> <div class="solution-description" id="solution-non-us"> <h1>AmplideX® SMA Plus Kit </h1> <p><img loading="lazy" decoding="async" class="wp-image-192164 aligncenter" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_680,h_453/https://asuragen.com/wp-content/uploads/2020/07/Rocket-backpack-kid-1024x682.jpg" alt="" width="680" height="453" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024/https://asuragen.com/wp-content/uploads/2020/07/Rocket-backpack-kid-1024x682.jpg 1024w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_300/https://asuragen.com/wp-content/uploads/2020/07/Rocket-backpack-kid-300x200.jpg 300w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_768/https://asuragen.com/wp-content/uploads/2020/07/Rocket-backpack-kid-768x512.jpg 768w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1430/https://asuragen.com/wp-content/uploads/2020/07/Rocket-backpack-kid.jpg 1430w" sizes="auto, (max-width: 680px) 100vw, 680px" /></p> <p>The <strong>AmplideX<sup>®</sup> SMA Plus Kit<sup>*</sup></strong> is an <em>in vitro</em> 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 <em>SMN1</em> and <em>SMN2</em> 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 <em>SMN1</em> and <em>SMN2</em> sequences, and detects variants <em>SMN1</em> c.*3+80T>G and <em>SMN1</em> c.*211_*212del, which are associated with <em>SMN1</em> gene duplication and “silent carrier” status, as well as variant <em>SMN2</em> c.859G>C, which is associated with a milder disease phenotype.</p> <p><a class="btn -large -underline" href="https://asuragen.com/contact/" rel="noopener">Order the AmplideX PCR/CE SMN1/2 Plus Kit</a></p> <nav class="solutions-nav"> <a href="#non-us-1">Disease Background</a> <a href="#non-us-2">Features & Benefits</a> <a href="#non-us-3">Analytical Performance</a> <a href="#non-us-4">Additional Resources</a> <a href="#non-us-5">Order Now</a> <a href="#non-us-6">Ordering Information</a> </nav> <div id="non-us-1" class="solutions-detail-content"> <h3 class="solution-subtitle">Disease Background</h3> <ul> <li><strong>General Information</strong> <ul> <li>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.</li> <li>It is transmitted via an autosomal recessive inheritance pattern</li> </ul> </li> <li><strong>Diagnosing SMA</strong> <ul> <li>SMA is diagnosed when no functional copies of the <em>SMN1</em> gene are present</li> <li>Disease severity is inversely correlated to the number of <em>SMN2</em> copies present</li> <li>Life-saving treatments must be started early, so rapid delivery of diagnostic test results is critical</li> </ul> </li> <li><strong>Carrier Screening</strong> <ul> <li>Approximately 1 in 50 individuals is a carrier of SMA</li> <li>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</li> </ul> </li> </ul> </div> <div id="non-us-2" class="solutions-detail-content"> <h3 class="solution-subtitle">Features & Benefits</h3> <p><strong><span style="color: #4298cc;">Reduced Complexity<br /> </span></strong><em>Ease of data analysis and reporting</em></p> <p><img loading="lazy" decoding="async" class="size-full wp-image-603 alignright" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_170,h_60/https://asuragen.com/wp-content/uploads/2016/04/ceivd-e1464190171263.png" alt="" width="170" height="60" /></p> <ul> <li>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</li> <li>Similar workflow to AmplideX PCR/CE <em>FMR1</em><sup>*†</sup> kit eases implementation and training</li> <li>Assay-specific software automates results reporting and streamlines data analysis</li> </ul> <p><strong><span style="color: #4298cc;">Optimized Workflow</span><br /> </strong><em>Reduces valuable operator hands-on-time and overall turnaround time</em></p> <ul> <li>Diagnostic and screening results are reported in less than four hours with only 60 minutes of hands-on-time</li> <li>Scalable workflow supports high sample throughput testing</li> <li>Optimized for use on widely installed CE equipment</li> <li>Fully-kitted solution sourced from a single vendor</li> </ul> <p><strong><span style="color: #4298cc;">Quality Performance</span><br /> </strong><em>Comprehensive analysis of SMN1 and SMN2 genes for the diagnosis and screening of SMA</em></p> <ul> <li>High resolution of <em>SMN1/2 </em>copy number across a broad range improves accuracy in identifying SMA patients and carriers</li> <li>Excellent concordance of copy number and variant results compared to multiple orthogonal test methods</li> </ul> <p><a href="http://asuragen.com/wp-content/uploads/2021/03/AmplideX_SMA_Plus_Kit__CE_IVD__Product_Brochure.pdf" target="_blank" rel="noopener"><img loading="lazy" decoding="async" class="alignleft wp-image-2980" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_135,h_69/https://asuragen.com/wp-content/uploads/2016/07/Download-Brochure-Button_Blue.png" alt="Download Brochure" width="135" height="69" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_309/https://asuragen.com/wp-content/uploads/2016/07/Download-Brochure-Button_Blue.png 309w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_300/https://asuragen.com/wp-content/uploads/2016/07/Download-Brochure-Button_Blue-300x152.png 300w" sizes="auto, (max-width: 135px) 100vw, 135px" /></a></p> <p> </p> <p> </p> <p> </p> <p>*For Research Use Only. Not for use in Diagnostic procedures.</p> </div> <div id="non-us-3" class="solutions-detail-content"> <h3 class="solution-subtitle">Analytical Performance</h3> <ul> <li>Automated and streamlined reporting of <em>SMN1</em> and <em>SMN2</em> copy number and variant detection via AmplideX Reporter Software (Figure 1)</li> <li>Provide critical test results from a single reaction — and all in less than four hours (Figure 2)</li> <li>Excellent concordance of <em>SMN1</em> and <em>SMN2</em> copy number results to sites’ in-house methods for over 400 replicates (Figure 3)</li> <li>High assay specificity permits detection of <em>SMN1–SMN2</em> hybrid peaks, including those resulting from gene conversion events (Figure 4)</li> <li>100% agreement observed between Sanger sequencing and AmplideX SMA Plus Kit for detection of <em>SMN1</em> gene duplication and <em>SMN2</em> disease modifier variants (Figure 5).</li> </ul> <p><strong>Figure 1</strong>. Example Electropherogram Output for the AmplideX SMA Plus Kit</p> <p><img loading="lazy" decoding="async" class="alignnone size-large wp-image-192165" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024,h_357/https://asuragen.com/wp-content/uploads/2020/07/Figure-1-SMA-CE-IVD-1024x357.png" alt="" width="1024" height="357" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024/https://asuragen.com/wp-content/uploads/2020/07/Figure-1-SMA-CE-IVD-1024x357.png 1024w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_300/https://asuragen.com/wp-content/uploads/2020/07/Figure-1-SMA-CE-IVD-300x105.png 300w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_768/https://asuragen.com/wp-content/uploads/2020/07/Figure-1-SMA-CE-IVD-768x268.png 768w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1428/https://asuragen.com/wp-content/uploads/2020/07/Figure-1-SMA-CE-IVD.png 1428w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></p> <p><strong>Figure 2</strong>. AmplideX SMA Plus Kit Testing Workflow</p> <p><img loading="lazy" decoding="async" class="alignnone size-large wp-image-192166" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024,h_221/https://asuragen.com/wp-content/uploads/2020/07/Figure-2-SMA-CE-IVD-1024x221.png" alt="" width="1024" height="221" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024/https://asuragen.com/wp-content/uploads/2020/07/Figure-2-SMA-CE-IVD-1024x221.png 1024w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_300/https://asuragen.com/wp-content/uploads/2020/07/Figure-2-SMA-CE-IVD-300x65.png 300w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_768/https://asuragen.com/wp-content/uploads/2020/07/Figure-2-SMA-CE-IVD-768x165.png 768w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1430/https://asuragen.com/wp-content/uploads/2020/07/Figure-2-SMA-CE-IVD.png 1430w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></p> <p><strong>Figure 3</strong>. Excellent reproducibility of <em>SMN1</em> and <em>SMN2</em> copy number reporting across sites for over 400 replicates</p> <p><img loading="lazy" decoding="async" class="alignnone size-large wp-image-192167" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024,h_530/https://asuragen.com/wp-content/uploads/2020/07/Figure-3-SMA-CE-IVD-1024x530.png" alt="" width="1024" height="530" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024/https://asuragen.com/wp-content/uploads/2020/07/Figure-3-SMA-CE-IVD-1024x530.png 1024w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_300/https://asuragen.com/wp-content/uploads/2020/07/Figure-3-SMA-CE-IVD-300x155.png 300w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_768/https://asuragen.com/wp-content/uploads/2020/07/Figure-3-SMA-CE-IVD-768x398.png 768w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1536/https://asuragen.com/wp-content/uploads/2020/07/Figure-3-SMA-CE-IVD-1536x795.png 1536w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1559/https://asuragen.com/wp-content/uploads/2020/07/Figure-3-SMA-CE-IVD.png 1559w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></p> <p><strong>Figure 4</strong>. Detection and identification of SMN1 and SMN2 “hybrid peaks”</p> <p> </p> <p><img loading="lazy" decoding="async" class="alignnone size-large wp-image-192168" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024,h_563/https://asuragen.com/wp-content/uploads/2020/07/Figure-4-SMA-CE-IVD-1024x563.png" alt="" width="1024" height="563" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024/https://asuragen.com/wp-content/uploads/2020/07/Figure-4-SMA-CE-IVD-1024x563.png 1024w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_300/https://asuragen.com/wp-content/uploads/2020/07/Figure-4-SMA-CE-IVD-300x165.png 300w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_768/https://asuragen.com/wp-content/uploads/2020/07/Figure-4-SMA-CE-IVD-768x422.png 768w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1480/https://asuragen.com/wp-content/uploads/2020/07/Figure-4-SMA-CE-IVD.png 1480w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></p> <p><strong>Figure 5</strong>. Agreement between AmplideX SMA Plus Kit and Sanger sequencing for <em>SMN1</em> gene duplication (“silent carrier”) and <em>SMN2</em> disease modifier variants</p> <p> </p> <p><img loading="lazy" decoding="async" class="alignnone size-large wp-image-192169" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024,h_430/https://asuragen.com/wp-content/uploads/2020/07/Figure-5-SMA-CE-IVD-1024x430.jpg" alt="" width="1024" height="430" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1024/https://asuragen.com/wp-content/uploads/2020/07/Figure-5-SMA-CE-IVD-1024x430.jpg 1024w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_300/https://asuragen.com/wp-content/uploads/2020/07/Figure-5-SMA-CE-IVD-300x126.jpg 300w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_768/https://asuragen.com/wp-content/uploads/2020/07/Figure-5-SMA-CE-IVD-768x323.jpg 768w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1428/https://asuragen.com/wp-content/uploads/2020/07/Figure-5-SMA-CE-IVD.jpg 1428w" sizes="auto, (max-width: 1024px) 100vw, 1024px" /></p> </div> <div id="non-us-4" class="solutions-detail-content"> <h3 class="solution-subtitle">Additional Resources</h3> <p><span style="color: #4298cc;"><strong>Videos</strong></span></p> <p>Analytical validation of a multiplex PCR/CE assay for simultaneous determination of <em>SMN1/SMN2</em> exon 7 copy number and variant status (Milligan J, et al). Presented at ESHG 2020.2 Virtual Conference.</p> <p><iframe loading="lazy" src="https://player.vimeo.com/video/424831428" width="600" height="360" frameborder="0" allowfullscreen="allowfullscreen"></iframe></p> <p>Looking Beyond Copy Number, Part 2: Rapid, Comprehensive, and Complete <em>SMN1/2</em> Profiling with the AmplideX<sup>®</sup> SMA Plus Kit + Q&A (Lemmink H, et al). Presented at ESHG 2020.2 Virtual Conference.</p> <p><iframe loading="lazy" src="https://player.vimeo.com/video/433750622" width="600" height="360" frameborder="0" allowfullscreen="allowfullscreen"></iframe></p> <p><a href="https://www.sma-europe.eu/"><img loading="lazy" decoding="async" class=" wp-image-194322 alignleft" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_192,h_206/https://asuragen.com/wp-content/uploads/2023/06/SMA-Euro-280x300.png" alt="" width="192" height="206" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_280/https://asuragen.com/wp-content/uploads/2023/06/SMA-Euro-280x300.png 280w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_957/https://asuragen.com/wp-content/uploads/2023/06/SMA-Euro-957x1024.png 957w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_768/https://asuragen.com/wp-content/uploads/2023/06/SMA-Euro-768x822.png 768w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_1378/https://asuragen.com/wp-content/uploads/2023/06/SMA-Euro.png 1378w" sizes="auto, (max-width: 192px) 100vw, 192px" /></a> <a href="https://www.sma-screening-alliance.org/"><img loading="lazy" decoding="async" class="alignnone wp-image-194323" src="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_194,h_204/https://asuragen.com/wp-content/uploads/2023/06/NBS-Alliance-logo-vertical_CMYK_2023-285x300.jpg" alt="" width="194" height="204" srcset="https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_285/https://asuragen.com/wp-content/uploads/2023/06/NBS-Alliance-logo-vertical_CMYK_2023-285x300.jpg 285w, https://sp-ao.shortpixel.ai/client/to_webp,q_glossy,ret_img,w_973/https://asuragen.com/wp-content/uploads/2023/06/NBS-Alliance-logo-vertical_CMYK_2023-973x1024.jpg 973w, 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