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.
|Starting Material||gDNA (extractions available)|
|Assay Coverage||Full Coding Exons, Coding Exon of Interest, Introns|
|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.
Amplicon selection and primer design to targeted regions of interest
Optimization of project-specific samples
PCR amplification of genomic DNA using optimized conditions
Bi-directional DNA sequencing per amplicon and final report identifying mutations
Mutation Analysis Turnaround Time Comparison: GENEWIZ versus In-house
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.
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.