GENEWIZ from Azenta | Mutation Analysis

<!DOCTYPE html>    <html lang="en">  <head> <title>GENEWIZ from Azenta | Mutation Analysis</title>  <meta charset="utf-8"> <meta http-equiv="X-UA-Compatible" content="IE=edge,chrome=1"> <meta name="viewport" content="width=device-width, initial-scale=1.0"> <meta name="description" content="Describes the services/benefits that GENEWIZ offers for Mutation Analysis and SNP Discovery Sequencing."> <meta name="keywords" content="genewiz, azenta life sciences, snp discovery, snp discovery sequencing, mutation, pcr amplification, single nucleotide polymorphisms, mutation analysis, optimized assays, exon resequencing, assay optimization, purified genomic dna templates, high-throughput facility, throughput pcr amplification, capillary electrophoresis, amplified using optimized assays, extract genomic, pcr assays targeted, non-sense mutation, snp discovery assays, high throughput pcr amplification"> <meta name="author" content="">  <link rel="shortcut icon" href="favicon.png">   <link rel="stylesheet" href="/assets/plugins/bootstrap/css/bootstrap.min.css"> <link rel="stylesheet" href="/assets/css/style.css?v=1"> <link rel="stylesheet" href="/assets/css/custom.css?v=1"> <link rel="canonical" href="https://www.genewiz.com/Public/Services/Molecular-Genetics/Mutation-Analysis/" /> <link rel="alternate" hreflang="x-default" href="https://www.genewiz.com/Public/Services/Molecular-Genetics/Mutation-Analysis" /> <link rel="alternate" hreflang="en-us" href="https://www.genewiz.com/Public/Services/Molecular-Genetics/Mutation-Analysis" /> <link rel="alternate" hreflang="en-us" href="https://www.genewiz.com/en/Public/Services/Molecular-Genetics/Mutation-Analysis" /> <link rel="alternate" hreflang="en-GB" href="https://www.genewiz.com/en-GB/Public/Services/Molecular-Genetics/Mutation-Analysis" /> <script type="text/javascript" src="/sitecore/shell/controls/lib/prototype/prototype.js"></script> <script type="text/javascript" src="/assets/plugins/jquery/jquery.min.js"></script> <script type="text/javascript"> var jQuery = $; //if (window.location.search.indexOf("sc_mode=edit") > 0) { jQuery.noConflict(); //} </script> <script type="text/javascript" src="/assets/plugins/bootstrap/js/bootstrap.min.js"></script> <script type="text/javascript" src="/assets/plugins/back-to-top.js"></script> <script type="text/javascript" src="/assets/js/app.js"></script>   <script> (function (w, d, s, l, i) { w[l] = w[l] || []; w[l].push( { 'gtm.start': new Date().getTime(), event: 'gtm.js' } ); var f = d.getElementsByTagName(s)[0], j = d.createElement(s), dl = l != 'dataLayer' ? 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Azenta Life Sciences, formerly GENEWIZ’s Mutation Analysis service helps scientists ramp up mutation detection in coding exons, enabling scientists to quickly analyze and identify mutations that may affect the function of their gene of interest.</p> <a name="solution"></a> <br /> <a rel="noopener noreferrer" rel="noopener noreferrer" href="https://clims4.genewiz.com/DynamicForm/CreateView?lobId=10&serviceId=1002" target="_blank"><button>Request Quote</button>   </a></div> <div class="ngs-content-box" id="ngs-content-box-right"><a rel="noopener noreferrer" href="https://cdn2.hubspot.net/hubfs/3478602/Sell Sheet Collateral Library/NGS/Sell Sheets + Brochures/NGS_Overview Sell Sheet_032219.pdf" target="_blank"></a><a rel="noopener noreferrer" href="https://web.genewiz.com/hubfs/NGS/NGS Content/NGS Brochure/NGS_Overview_Digital_Brochure_Feb26_2018_no_crops.pdf" target="_blank"> </a><a rel="noopener noreferrer" rel="noopener noreferrer" href="https://www.genewiz.com/en/Public/Services/Molecular-Genetics/PCR-Solutions" target="_blank"><img alt="" src="/-/media/17001DqPCRdPCRWebBanRight2.ashx?la=en&hash=667C0B7B2E5796BDD1BF6575F2DB2C22E6168950" /></a></div> </div> </div> </div> <div class="headline-center Rich-Text-Edit-Area"> <link href="https://fonts.googleapis.com/css?family=Roboto:300,400,500,700" rel="stylesheet" /> <style type="text/css"> .covid-banner { width: 1170px; height: auto; margin: 0 auto; background-image: url("/-/media/11037-D_Sanger-Troubleshoot_WebBanFull-Med_Background.ashx"); background-size: cover; background-position: center; text-align: left; padding: 0px 0 0px 0; } .covid-content { text-align: center; } .covid-box h3 { color: #ffffff; text-transform: none; letter-spacing: 1px; border-bottom: none; font-family: 'Roboto', sans-serif; font-weight: 450; line-height: 125%; font-size: 35px; margin: 0; padding-bottom: 15px; padding-top: 25px; } .covid-box h4 { color: #ffffff; text-transform: none; letter-spacing: 1px; line-height: 30px; border-bottom: none; font-family: 'Roboto', sans-serif; font-weight: 400; font-size: 35px; margin: 0; margin-bottom: 5px; } .covid-box p { color: #000000; text-transform: none; letter-spacing: 1px; border-bottom: none; font-family: 'Roboto', sans-serif; font-weight: 400; font-size: 15px; margin: 0; margin-bottom: 5px; } .covid-box button { padding: 8px 19px; color: #826ec3; letter-spacing: 1px; background: #ffffff; border: 2px solid #ffffff; border-radius: 0px; transition: all .2s ease-in-out; font-size: 15px } .covid-box button:hover { cursor: pointer; transform: scale(1.1); } .covid-box button:focus { outline: 0; } @media only screen and (max-width: 1170px) { .covid-banner { width: 100%; height: auto; } .covid-content { width: 90%; margin: 0 auto; } } </style> <br /> <div class="covid-banner"> <div class="covid-content"> <div class="covid-box"> <br /> <h3>Troubleshooting DNA Templates<br /> with Sanger Sequencing</h3> <a href="https://hubs.ly/Q02BXqwV0" target="_blank"> <br /> <button> READ BLOG</button> <br /> </a> <p> </p> </div> </div> </div> <p> </p> </div> <div class="headline-center Rich-Text-Edit-Area"> <div class="container"> <h2>MUTATION DETECTION AND SCREENING</h2> <p style="text-align: left;"> Mutations are genetic alterations that are acquired in germ or non-germ (somatic) cells. Mutations can be present as an insertion, deletion, or base pair change in the coding or non-coding regions, resulting in silent, missense, or nonsense mutations. In some cases, a mutation occurs at the intron-exon boundary, disrupting the normal splicing of the transcript. Sanger sequencing-based mutation analysis, mutation screening, and exon resequencing all involve high volume PCR amplification and sequencing to uncover these mutations. </p> <p style="text-align: left;"> Mutation analysis and screening techniques can be used as either your primary source for mutation detection, or as a confirmation of next generation sequencing and microarray results. No matter the application, utilize Azenta’s expertise in targeting genomic regions of DNA with specific, robust assays.</p> </div> <br> <br> <br> </div> <div class="headline-center Rich-Text-Edit-Area"> <style> .ma-btn { border: none; width: 235px; height: 55px; background: #3498db; color: #fff; letter-spacing: 1px; } </style> <div class="col-md-6 col-centered"> <h2>Service Highlights</h2> <table class="table table-responsive table-bordered"> <tbody class="panel panel-purple"> <tr class="panel-heading"> <td colspan="2">MUTATION ANALYSIS</td> </tr> <tr> <td>Starting Material</td> <td>gDNA (extractions available)</td> </tr> <tr> <td>Assay Coverage</td> <td>Full Coding Exons, Coding Exon of Interest, Introns</td> </tr> <tr> <td rowspan="3">Confirm/Identify</td> <td>SNPs</td> </tr> <tr> <td> Mutations</td> </tr> <tr> <td>Indels</td> </tr> <tr> <td rowspan="3">Deliverables/Reports</td> <td>Raw data files: .ab1, .seq</td> </tr> <tr> <td>Nucleotide level mutations </td> </tr> <tr> <td>Amino acid changes *</td> </tr> </tbody> </table> <p>*Available upon request</p>  <br> <p>Looking to validate annotated SNPs of interest? See Azenta's <a href="https://www.genewiz.com/Public/Services/Molecular-Genetics/SNP-Genotyping">SNP Genotyping service</a>.</p> </div> </div> <script type="text/javascript" src="/assets/plugins/counter/jquery.counterup.min.js"></script> <script language="javascript" type="text/javascript"> jQuery(document).ready(function ($) { $(".row .category").find("img").addClass("img-responsive"); }); </script> <div class='Component-Frame pull-center Multi-column-TextBullet-Layout Component-BackGround-Default margin-top-0 margin-bottom-30 padding-top-10 padding-bottom-10'> <div class="container"> <div class="headline-center"> <h2>Features & Benefits</h2> </div> <div class="headline-left"> </div> <div class="row category"> <div class="col-md-6 col-sm-6"> <div class="content-boxes-v3 margin-bottom-20"> <div class="col-md-2"><i class="BlueCheck icon-custom icon-bg-light icon-4x fa fa-check"></i></div> <div class="content-boxes-in-v3"> <strong>Reliable Assay Development:</strong> Our highly-trained scientists develop robust and reproducible PCR assays targeted to your SNPs of interest.<br><br><br> </div> </div><div class="content-boxes-v3 margin-bottom-20"> <div class="col-md-2"><i class="BlueCheck icon-custom icon-bg-light icon-4x fa fa-check"></i></div> <div class="content-boxes-in-v3"> <strong>High-Throughput Processing</strong>: Target SNPs are amplified using optimized assays; amplicons are purified and efficiently sequenced by capillary electrophoresis in our high-throughput facility.<br> </div> </div> </div> <div class="col-md-6 col-sm-6"> <div class="content-boxes-v3 margin-bottom-20"> <div class="col-md-2"><i class="BlueCheck icon-custom icon-bg-light icon-4x fa fa-check"></i></div> <div class="content-boxes-in-v3"> <strong>Accurate Data Analysis:</strong> SNP are identified by software programs and confirmed by Azenta scientists to ensure accuracy of the reported data. Azenta will provide a report with nucleotide level findings. Customizable reports are available upon request for a complete start-to-finish solution.<br> </div> </div><div class="content-boxes-v3 margin-bottom-20"> <div class="col-md-2"><i class="BlueCheck icon-custom icon-bg-light icon-4x fa fa-check"></i></div> <div class="content-boxes-in-v3"> <strong>Developed Assay Lists:</strong> Clients can store assays with Azenta and re-order them over time from a dynamic assay list that will be built to fit each client’s research needs. <br> </div> </div> </div> </div> </div> </div><div class="headline-center Rich-Text-Edit-Area"> <link href="https://fonts.googleapis.com/css?family=Roboto:300,400,500,700" rel="stylesheet" /> <style type="text/css"> .oligo-pools-banner { width: 1170px; margin: 0 auto; background-image: url("/-/media/Images/Desktop_Blue.ashx"); background-size: cover; background-position: center center; text-align: left; padding: 40px 35px; } .oligo-pools-content { text-align: center; } .oligo-pools-box h3 { color: #FFFFFF; text-transform: none; letter-spacing: 1px; border-bottom: none; font-family: 'Roboto', sans-serif; font-weight: 500; font-size: 40px; margin: 10px; margin-bottom: 15px; line-height: 40px } .oligo-pools-box span { font-family: 'Roboto', sans-serif; font-weight: 300; } #oligo-pools-box-right { margin-top: 30px; } #oligo-pools-box-left span { font-weight: 200; font-size: 14px; letter-spacing: 1px; } #oligo-pools-box-right button { padding: 8px 15px; color: #40E0D0; letter-spacing: 1px; background: #00000; border: 2px solid #0000; border-radius: 3px; transition: all .2s ease-in-out; font-size: 16px } #oligo-pools-box-right button:hover { cursor: pointer; background: #00000; border: 2px solid #40E0D0; color: #00000; transform: scale(1.2); } #oligo-pools-box-right button:focus { outline: 0; } @media only screen and (max-width: 1170px) { .oligo-pools-banner { width: 90%; } .oligo-pools-content { width:90%; margin: 0 auto; } .oligo-pools-box h3 { font-size: 40px; } .oligo-pools-box p { line-height: 25px } } </style> <div class="oligo-pools-banner"> <div class="oligo-pools-content"> <div class="oligo-pools-box" id="oligo-pools-box-left"> <h3>NGS, PCR, or Sanger Sequencing:<br /> An Assay Selection Guide</h3> <div class="oligo-pools-box" id="oligo-pools-box-right"> <a href="https://blog.genewiz.com/ngs-qpcr-or-sanger-sequencing-an-assay-selection-guide?utm_campaign=2022-03 GEN MG-qPCR&utm_source=Mutation Analysis&utm_medium=web banner&utm_content=US" target="blank"> <button><strong> Read Blog </strong></button> </a> </div> </div> </div> </div> </div> <div class="headline-center Rich-Text-Edit-Area"> <style type="text/css"> .workflow-container { width: 76%; margin: 0 auto; margin-top: 40px; } .workflow { width: 100%; margin: 0 auto; text-align: center; } .workflow-step { display: inline-block; width: 22%; vertical-align: top; padding: 5px; margin-bottom: 40px; } .workflow-step img { margin: 0 auto; margin-bottom: 40px; } .workflow-step h3 { border-bottom: none; } .workflow-step p { } .workflow-icon { text-align: center; } @media only screen and (max-width: 1200px) { .workflow { text-align: left; margin: 0 auto; } .workflow-step { width: 45%; } } @media only screen and (max-width: 500px) { .workflow-step { width: 100%; } } </style> <h3 style="text-align: center; margin-bottom: 30px;">Azenta MUTATION ANALYSIS WORKFLOW</h3> <div class="workflow-container"> <div class="workflow"> <div class="workflow-step"> <div class="workflow-icon"> <img alt="" src="/-/media/Images/Services/MG/icons/210x110/ma-data-generalization-grey.ashx?la=en&hash=62D6DE3113A7C2226A88C5F4F316CD04806FECCD"> </div> <h3>1. PROJECT CONSULTATION & PRIMER DESIGN</h3> <p>Amplicon selection and primer design to targeted regions of interest</p> </div> <div class="workflow-step"> <div class="workflow-icon"> <img alt="" src="/-/media/Images/Services/NGS/Workflows/library-prep-workflow_110x210.ashx?la=en&hash=517F7A2E145D39BF36DDADC48A68DFE054DCD56A"> </div> <h3>2. ASSAY DEVELOPMENT<br> <br> </h3> <p>Optimization of project-specific samples</p> </div> <div class="workflow-step"> <div class="workflow-icon"> <img alt="" src="/-/media/Images/Services/NGS/icons/210x110/PCR-Primer-DesignOptimization_110x210.ashx?la=en&hash=65467A3FC5D795A6B9382DC795266E874DBDBCC0"> </div> <h3>3. PCR & PURIFICATION<br><br></h3> <p>PCR amplification of genomic DNA using optimized conditions</p> </div> <div class="workflow-step"> <div class="workflow-icon"> <img alt="" src="/-/media/Images/Services/MG/icons/210x110/ma-sequencing-data-mg-grey.ashx?la=en&hash=93127C85C9AB576D3DCD98C93242D7ECEEF7A97F"> </div> <h3>4. SEQUENCING & DATA ANALYSIS<br><br></h3> <p>Bi-directional DNA sequencing per amplicon and final report identifying mutations</p> </div> </div> </div> </div> <div class="headline-center Rich-Text-Edit-Area"> <div class="container"> <h2>Azenta <span style="text-transform: none;">vs. In-House</span></h2> <p>Mutation Analysis Turnaround Time Comparison: Azenta versus In-house</p> <h3>AZENTA TURNAROUND: 3 DAYS</h3> <img alt="" class="img-responsive" src="/-/media/Images/Services/MG/3days.ashx?la=en&hash=736C4A4140914A524209FB328685AF0FD4DBE2DF" width="100%"> <h3>IN-HOUSE TURNAROUND: 2-4 WEEKS</h3> <img alt="" class="img-responsive" src="/-/media/Images/Services/MG/workflow/inhouse-turnaround-2-4-weeks.ashx?la=en&hash=D3874AEE92C397F343940D0F12D812807825F3AB"> </div> <br> <br> </div> <div class="headline-center Rich-Text-Edit-Area"> <div class="container"> <h2>SAMPLE SUBMISSIONS GUIDELINES</h2> <p> Azenta accepts purified genomic DNA or can extract genomic DNA from various sample types, including biosafety level 1 (BSL1) and 2 (BSL2) supplied sources. For detailed sample submission requirements please visit our <a href="/Public/Resources/Sample-Submission-Guidelines/Molecular-Genetics-Sample-Submission-Guidelines" target="_blank">Sample Submission Guidelines</a> page.</p> <p> </p> <p> </p> </div> </div> <div class="headline-center Rich-Text-Edit-Area"> <div class="container"> <h2>Deliverables</h2> <p>All customers will receive raw sequence data files and a final report identifying mutations compared to the provided reference sequence. Custom mutation analysis reports are available upon request.</p> </div> </div> <div class="headline-center Rich-Text-Edit-Area"> <style type="text/css"> .related-services-container { width: 76%; margin: 0 auto; margin-top: 40px; } .related-services { width: 100%; margin: 0 auto; text-align: center; } .related-services-block { display: inline-block; width: 18%; vertical-align: top; padding: 5px; margin-bottom: 40px; } .related-services-block img { width: 150px; margin: 0 auto; margin-bottom: 40px; } .related-services-block h2 { text-align: center; font-size: 18px; font-family: sans-serif; border-bottom: none; } .related-services-block p { width: 80%; margin: 0 auto; text-align: left; } .related-services-icon { text-align: center; } @media only screen and (max-width: 1200px) { .related-services { text-align: left; margin: 0 auto; } .related-services-block { width: 45%; } } @media only screen and (max-width: 500px) { .related-services-block { width: 100%; } } </style> <h1 style="text-align: center; margin-bottom: 30px;">Related Services</h1> <div class="related-services-container"> <div class="related-services"> <div class="related-services-block"> <div class="related-services-icon"> <a href="https://www.genewiz.com/en/Public/Services/Molecular-Genetics/cDNA-Verification"><img alt="" src="/-/media/Images/Home/icons/Purple-Icons/cDNA-verification-services_110x210_Purple.ashx?la=en&hash=115D2256CBBFC3BE64778CC4B92F41CA84406FBA" /></a> </div> <h3>RNA/cDNA Verification<br /> <br /> </h3> <p>Verify your cell bank sequences at either the cDNA or gDNA level</p> </div> <div class="related-services-block"> <div class="related-services-icon"> <a href="https://www.genewiz.com/Public/Services/Molecular-Genetics/PCR-Plus-Sequencing-CRISPR-Analysis-Package"><img alt="" src="/-/media/Images/Home/icons/Purple-Icons/PCR-PLUS-SEQUENCING-CRISPR-ANALYSIS-icon_210x110_Purple_DESIGN.ashx?la=en&hash=14E33A6152179BC267AC8AABF371834369DF33AD" /></a> </div> <h3>CRISPR Analysis Package<br /> <br /> </h3> <p>Determine the efficiency of CRISPR-mediated genome editing with this Sanger based service. TA cloning options available.</p> </div> <div class="related-services-block"> <div class="related-services-icon"> <a href="https://www.genewiz.com/Public/Services/Molecular-Genetics/SNP-Genotyping"><img alt="" src="/-/media/Images/Home/icons/Purple-Icons/GWZ_GLP_SNP_Mutation_Analysis_Web_Icon_Purple.ashx?la=en&hash=1E4827BDDCD471FF2553A7D331CFBB06B1840684" /></a> </div> <h3>SNP Genotyping<br /> <br /> </h3> <p>PCR- and Sequencing-based SNP Genotyping service used to identify SNPs.</p> </div> <div class="related-services-block"> <div class="related-services-icon"> <a href="https://www.genewiz.com/en/Public/Services/Next-Generation-Sequencing/CRISPR-Validation"><img alt="" src="/-/media/Images/Home/icons/Purple-Icons/genotyper-210x110_Purple.ashx?la=en&hash=366518EE7A3F476BDE503CBFD8BDBE5CE771F490" /></a> </div> <h3>CRISPR Validation<br /> <br /> </h3> <p>High-throughput, ultra-sensitive, NGS genotyping solution used to identify on-target mutations</p> </div> <div class="related-services-block"> <div class="related-services-icon"> <a href="https://www.genewiz.com/Public/Services/Regulatory/GLP-compliant-SNP-Mutation-Analysis"><img alt="" src="/-/media/Images/Home/icons/Purple-Icons/GLP-compliant-SNP-Mutation-Analysis_110x210_Purple.ashx?la=en&hash=B227ED3AFD177D5CC03276EBD8E3599E53D657F1" /></a> </div> <h3>GLP-Compliant SNP/Mutation Analysis<br /> <br /> </h3> <p>Support your FDA and EPA submissions by identifying SNPs or mutations with GLP-compliant sequencing. </p> </div> </div> </div> </div>  <div class="process-v1 How-To-Order Component-BackGround-Gray margin-top-0 padding-top-10 padding-bottom-10 "> <div class=" container"> <div class="headline-center"> <div class="row"> <h2>HOW TO ORDER</h2> </div> <div class="row"> *Samples must arrive at the Azenta New Jersey Laboratory before 10:00 am EST to qualify for Same Day service. 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