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.
DEFINE, DESIGN, DISCOVER Our experienced scientists work one-on-one with scientists, researchers and clinicians to provide a ‘Complete Solution’ for Genotyping, Gene Expression and miRNA Profiling Services, from experimental design to in-depth data analysis and advanced bioinformatics. Our ‘Complete Solutions’ include state of the art Technologies from Illumina, Thermofisher Scientific and Affymetrix for challenging specimens, such as LCM, FFPE and whole blood samples. With over 40 years of combined experience, our scientists at Genome Explorations have developed detailed standard operating procedures (SOPs) that allow us to consistently generate the highest quality, most reproducible data sets in the industry.
Detect, Characterize. Genomic research continues to identify mutations associated with specific cancers and, in combination with clinical research, to identify their clinical relevance to a specific cancer and the prognosis/treatment for patients. While some mutations may be pathogenic, some are benign. Mutation profiling allows us to identify which mutations are present, determine clinical significance of those mutations, and identify pathogentic mutations with actionable therapies. To this end, mutation profiling using next generation sequencing and targeted cancer-specific panels allows us to detect mutations across multiple genes simultaneously and to screen patient susceptibility to a specific cancer.
Targeted Cancer, Targeted SOLUTIONS. Through genomic research, we continue to learn more about the complexity of cancer. While cancer continues to be identified by its location in the body (lung, breast, blood, etc.), we have learned that a more accurate way to evaluate cancer treatment is through examination of the underlying changes or mutations which drive cancer development and progression. Those mutations are not limited to location and, in many instances, have very little correlation with the location.