Abstract:

Rare diseases are a series of single disease with a low incidence severe condition,and rapid progress. Early diagnosis can effectively delay the course of disease and improve the quality of life of patients. With the popularization of high-throughput sequencing,gradual improvement of third-generation sequencing technique and advances in multiomics research technique,laboratory diagnostic methods for rare diseases have continued to diversify and become more efficient. The integration of high-speed updated big data,selective combination of cytogenetics and molecular genetics methods,and flexible use of biochemical detection indicators will effectively support and promote the diagnosis of rare diseases. Technological progress has greatly improved the diagnostic level of rare diseases,and a comprehensive understanding of laboratory diagnostic techniques for rare diseases will help to give full play to its advantages in clinical applications. In this article,we reviewed the existing laboratory diagnostic techniques for rare diseases and their progress in order to improve clinical understanding of different diagnostic techniques and help to choose suitable testing methods.

Key words: Rare diseases, Laboratory diagnostic techniques, Cytogenetics, Molecular genetics, High-throughput sequencing