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welcome to our video series about triplet repeat disorders and their molecular diagnostic techniques this is part one of a two-part presentation created by talia silver and Navin II aljalja students in the medical genomics masteramp;#39;s program at the University of Toronto in part one of this presentation we will be using fragile X syndrome as an example of triplet repeat disorders we will discuss the phenotype and molecular basis of disease for fragile X syndrome and then move on to current diagnostic techniques in part 1 we will introduce the southern blot method and discuss the benefits and limitations of using southern blots for fragile X testing then follow along to part 2 where we will introduce the triplet primed PCR method and discuss how to interpret the electropherogram output the benefits and limitations of triplet primed PCR will be touched upon and we will introduce some future directions of what is currently being developed for repeat expansion Diagnostics fragile X sy