Mutation Screening

Mutations are genetic alterations that are acquired either in germ or non-germ (somatic) cells. They could cause various diseases and might affect the response of a patient to drug treatment. The mutation can be an insertion, deletion, mis-sense or non-sense mutation in the coding or non-coding regions. In some cases, mutation occurs at the intron-exon boundaries and affects the normal splicing of the transcript. GENEWIZ offers a complete package of mutation screening services.

This service includes -

• Mutation assay development, including amplicon selection and primer design
• Assay optimization and validation
• Extraction of genomic DNA from patient samples (fresh, fixed and/or paraffin-embedded)
• PCR amplification of genomic DNA using validated conditions
• High throughput, purification and bi-directional DNA sequencing using validated conditions
• Automated and manual analysis of sequencing results
• Identification of SNPs vs. mutations

Mutation assays are designed by our PhD scientists using both commercial and proprietary software. Optimization and validation are performed using control DNA samples, and failed assays will be repeated using different conditions and protocols. The optimization and validation procedure ensures robust PCR amplification and optimal sequencing results. A candidate mutation will be compared to public databases to determine whether it is a SNP or a mutation. For somatic mutation analysis, the identification of mutations will be performed manually to ensure that mutations in a sample that contained normal tissues will not be missed. All genetic variations are reported in a consolidated format that is customized to your specifications.

To order this service, please email dnaseq@genewiz.com with your project information. GENEWIZ Customer Support will contact you to discuss the project scope in detail.