Mutation Analysis
Characterizing mutations is an important technique in the molecular biologist’s toolbox. GENEWIZ 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.
MUTATION DETECTION AND SCREENING
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.
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.
Service Highlights
| MUTATION ANALYSIS | |
| Starting Material | gDNA (extractions available) |
| Assay Coverage | Full Coding Exons, Coding Exon of Interest, Introns |
| Confirm/Identify | SNPs |
| Mutations | |
| Indels | |
| Deliverables/Reports | Raw data files: .ab1, .seq |
| Nucleotide level mutations | |
| Amino acid changes * | |
*Available upon request
Looking to validate annotated SNPs of interest? See Azenta’s snp genotyping service.
Features & Benefits
GENEWIZ MUTATION ANALYSIS WORKFLOW
1. PROJECT CONSULTATION & PRIMER DESIGN
Amplicon selection and primer design to targeted regions of interest
2. ASSAY DEVELOPMENT
Optimization of project-specific samples
3. PCR & PURIFICATION
PCR amplification of genomic DNA using optimized conditions
4. SEQUENCING & DATA ANALYSIS
Bi-directional DNA sequencing per amplicon and final report identifying mutations
Azenta vs. In-House
Mutation Analysis Turnaround Time Comparison: Azenta versus In-house
AZENTA TURNAROUND: 3 DAYS
IN-HOUSE TURNAROUND: 2-4 WEEKS
SAMPLE SUBMISSIONS GUIDELINES
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 Sample Submission Guidelines page.
Deliverables
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.
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