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Tuberous sclerosis (TSC) is a common autosomal dominant disease. The gene-based diagnostic techniques of TSC has been rapidly developed, and has performed important roles in the determination of genotype-phenotypes as well as investigation of pathogenesis and gene therapies of TSC. This article describes the methods and technologies that have been used in the past 10 years to detect mutant genes in TSC from various aspects, including the rationale, advantages and disadvantages, clinical application. Some recent outcomes of genetic detection of TSC are also reviewed.