Single Nucleotide Polymorphism Testing
Single Nucleotide Polymorphism (SNP) is defined as a genomic locus where two or more alternative bases occur with appreciable frequency (>1%). SNPs are the most frequent type of variation in the human genome. For any given SNP, the SNP can occur in a coding region but not result in a change in amino acid, it can occur in a coding region with an amino acid change, it can occur in a regulatory region where the result is a change in gene expression, or it can occur in a region between genes. SNP detection technologies are used to scan for new polymorphisms and to determine the allele(s) of a known polymorphism in target sequences. SNP detection technologies have evolved from labor intensive, time-consuming, and expensive processes to some of the most highly automated, efficient, and relatively inexpensive methods.