SNP Genotyping Analysis
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A single-nucleotide polymorphism (SNP) is sequence variation at the single-base level. They can be found in coding, non-coding, and intronic regions of genomes, and they may affect transcription factor binding, gene splicing, protein folding, and many other elements at the gene and transcript level.
SNP variations in the human genome are believed to be associated with diseases and malignancies. Many linkage and association studies have been performed to connect allelic variation to diseases. There are currently more than 50+ million SNPs listed by dbSNP (NCBI) in the human genome, trending 2-3 million new discoveries every year.
Point Mutation Analysis
Pyrosequencing technology is ideal for gene-specific SNP genotyping and allele quantification, because it offers the advantage of built-in quality controls with every reaction. It is capable of detecting mutations with di-, tri-, and tetra-allelic polymorphisms, along with single-base insertions and deletions. This service is best for analyzing multiple SNPs located in a mutation "hot spot" region.
CytoScan HD GLOBAL Microarray SNP Genotyping
The Affymetrix CytoScan HD array covers 750,000 gene-centric SNPs alongside 1.9 million non-polymorphic copy number variation probes. It has high-density coverage of all OMIM aand RefSeq genes, and is capable of producing a global profile of several hundred thousand SNPs.
The Services Include: