Mutation Analysis

Characterizing mutations is an important technique in the molecular biologist’s toolbox. 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.


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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 GENEWIZ’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 GENEWIZ's SNP Genotyping service.

Features & Benefits

Reliable Assay Development: Our highly-trained scientists develop robust and reproducible PCR assays targeted to your SNPs of interest.


High-Throughput Processing: Target SNPs are amplified using optimized assays; amplicons are purified and efficiently sequenced by capillary electrophoresis in our high-throughput facility.
Accurate Data Analysis: SNP are identified by software programs and confirmed by GENEWIZ scientists to ensure accuracy of the reported data. GENEWIZ will provide a report with nucleotide level findings. Customizable reports are available upon request for a complete start-to-finish solution.
Developed Assay Lists: Clients can store assays with GENEWIZ and re-order them over time from a dynamic assay list that will be built to fit each client’s research needs.

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

GENEWIZ vs. In-House

Mutation Analysis Turnaround Time Comparison: GENEWIZ versus In-house

GENEWIZ TURNAROUND: 5 DAYS

IN-HOUSE TURNAROUND: 2-4 WEEKS



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.

SAMPLE SUBMISSIONS GUIDELINES

GENEWIZ 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.



Related Services

HOW TO ORDER

*Samples must arrive at the GENEWIZ New Jersey Laboratory before 10:00 am EST to qualify for Same Day service. Note that direct-sequencing templates are not available for our Same Day service.

Email | Phone (1-877-GENEWIZ (436-3949), Ext. 3350)