Mutation Analysis: Single Nucleotide Poloymorphism (SNP)

Mutations are genetic alterations either in germ or non-germ (somatic) cells. Mutations can impact the formation of various diseases as well as affect the response of a patient to particular drug treatments. The mutation can be an insertion, deletion, missense or nonsense mutation in the coding or non-coding regions. In some cases, a mutation occurs at the intron-exon boundary and affects the normal splicing of the transcript. Mutation analysis, mutation screening, exon resequencing, and SNP discovery all involve high volumes of PCR amplification and sequencing. Genome Explorations provides extensive expertise to support your SNP and mutation analysis research objectives.

Services Include:

  • Extraction of genomic DNA from samples (fresh, fixed, and/or paraffin-embedded)
  • Amplicon selection and primer design to target regions of interest or SNPs
  • Assay development and optimization
  • PCR amplification of genomic DNA using optimized conditions
  • High-throughput PCR purification and bi-directional DNA sequencing per amplicon
  • Automated and manual sequencing results analysis
  • Final report identifying mutations