Clinical diagnostic techniques for rare genetic diseases in children: current status, advances, and thoughts

HUANG Jin-Yue; ZHANG Bi-Li; LIU Wei

doi:10.7499/j.issn.1008-8830.2211010

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Chinese Journal of Contemporary Pediatrics ›› 2023, Vol. 25 ›› Issue (3) : 308-314. DOI: 10.7499/j.issn.1008-8830.2211010

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Clinical diagnostic techniques for rare genetic diseases in children: current status, advances, and thoughts

HUANG Jin-Yue¹, ZHANG Bi-Li², LIU Wei³

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Abstract

Rare diseases refer to a group of single diseases with low incidence rates, complex pathogeneses, severe disease conditions, and rapid progression. Most rare diseases have a genetic background and may occur in childhood. Paying attention to the rare genetic diseases in children and performing early diagnosis and treatment can effectively delay the course of disease and improve the quality of life of children. Many rare diseases can be diagnosed with the help of various experimental techniques, but the diagnosis of rare diseases is still not widely understood. This article summarizes the laboratory diagnostic techniques currently used for rare genetic diseases in children, so as to provide clues for the diagnosis and treatment of such diseases and help to enhance the theoretical understanding and precise medical treatment of rare genetic diseases in children.

Key words

Rare disease / Genetics / Diagnostic technique / Child

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HUANG Jin-Yue, ZHANG Bi-Li, LIU Wei. Clinical diagnostic techniques for rare genetic diseases in children: current status, advances, and thoughts[J]. Chinese Journal of Contemporary Pediatrics. 2023, 25(3): 308-314 https://doi.org/10.7499/j.issn.1008-8830.2211010

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