Genetic testing looks for specific inherited changes (mutations) in a person’s chromosomes, genes, or proteins.
A plethora of non-sequencing based genetic testing also popularly known as genotyping are available and employed successfully in different settings. Genotyping employs the strategy of identifying only the known, higher frequency mutations. Such methodologies are relatively inexpensive to perform, as well as conducive to rapid turnaround times, offering a accurate and cost effective first line of screening before opting for expensive sequencing based tests. However, genotyping is limited by the fact that they are targeted to a specific section of targeted mutations, and their frequencies, and frequently based on selected populations.
Microarray-based genotyping employ large-scale genome-wide SNP genotyping offering a single, cost-efficient platform to assess risk of multiple common genetic disorders with variably documented associations in one test.