Genetic Disorders, Genotyping Techniques and the Emerging Role of Tetra-ARMS-PCR as a Diagnostic Tool

Minor deviations in the script of human life (the genetic code) are known to have major consequences on human health and well-being. Even substitution of a single nucleotide (single nucleotide polymorphism — SNP) in the gene sequences can cause diseases. SNP genotyping refers to a variety of techniques that allow simultaneous detection of such changes that can be associated with the pathophysiology of different diseases. However, most of the current, cutting-edge SNP genotyping technologies are complex, expensive, and require post-PCR manipulation. The Tetra-Amplification-Refractory Mutation System-Polymerase Chain Reaction (T-ARMS-PCR) method is a simple tool that meets modern diagnostic laboratories’ expectations. It is a fast, reliable, and economical method of genotyping for genetic diseases such as β -thalassemia.