Most of rare diseases are hereditary diseases, characterized by low incidence, numerous varieties and diverse phenotypes, and therefore it is difficult to diagnose rare diseases timely and accurately in clinical practice. With the advances in the molecular genetics, the molecular diagnostic techniques, and the gene sequencing and omics techniques, a significant progress has been made in the diagnosis of rare diseases in recent years. On the basis of traditional gene detection techniques, the next-generation sequencing technology has been rapidly developed and widely used in the diagnosis and the research of rare diseases. The next-generation sequencing technology is costeffective and of high capacity over the traditional gene tests, and is well developed for the clinical use. The third generation sequencing also shows a potential diagnostic value. Although the traditional enzymatic detection techniques play an important role in the diagnosis of rare diseases, they fail to meet the surging diagnostic demands. Studies demonstrate that the rise of the proteomics and the metabolomics enables an accurate diagnosis of a variety of rare diseases. The computer-assisted initial diagnosis also sees a bright future, combined with the molecular imaging and the bio-information technologies. Technological advances have enhanced the ability to diagnose rare diseases to a great extent.
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