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Mutation Analysis

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.

Mutation analysis, mutation screening, exon resequencing, and SNP (single nucleotide polymorphisms) discovery involve high volumes of PCR amplification and sequencing. This can exhaust an organization's resources or extend the time required to reach key conclusions. GENEWIZ offers flexible, customizable services to meet your specific needs.


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Fast Turnaround Time


Mutation Analysis Turnaround Time Comparison: GENEWIZ versus In-house



*Turnaround time based on a completed project with 5 genes and 23 amplicon each for 20 samples.

GENEWIZ Mutation Analysis Services Include


  1. Mutation assay development, including amplicon selection and primer design
  2. Assay optimization and validation
  3. Extraction of genomic DNA from patient samples (fresh, fixed,and/or paraffin-embedded)
  4. PCR amplification of genomic DNA using validated conditions
  5. High-throughput PCR purification and bi-directional DNA sequencing
  6. Automated and manual sequencing result analysis
  7. Identification of SNPs versus mutations

Many years of assay development and sequencing experience enable GENEWIZ to produce the highest quality results. Our high-throughput capabilities allow fast turnaround with report formats customized to your downstream applications. Save time with GENEWIZ services!

Mutation Analysis & SNP Discovery

Mutation analysis and SNP discovery involve sensitive patient samples as well as high volumes of PCR amplification and sequencing. Save time and resources with GENEWIZ!

Reliable Assay Development

  1. Ph.D. scientists develop PCR assays targeted to your genes of interest

High-Throughput Processing

  1. Target genes are amplified using optimized assays; amplicons are purified and sequenced by capillary electrophoresis in our high-throughput facility
  2. GENEWIZ can start with purified genomic DNA templates or extract genomic DNA from supplied sources

Accurate Data Analysis

  1. Mutations or SNP's are identified with automated and manual analysis to ensure efficiency and accuracy
  2. GENEWIZ provides customized reports

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