Abstract
Rare diseases refer to the diseases with low prevalence,among which more than 150 kinds involve the kidney.Most of the rare renal diseases have genetic background.Due to complex etiology and diverse clinical phenotypes,most patients have progressed to the final stage of the disease before a clear diagnosis.Gene testing is a powerful tool for the diagnosis of rare renal diseases.The emergence of the next-generation sequencing (NGS) significantly improves the diagnostic efficiency and quality and provides an unprecedented opportunity to understand the molecular genetic basis of rare renal diseases and further select or develop targeted therapies.This article reviews the application progress,challenges,and prospects of NGS in rare kidney diseases.
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Schedule a callMore From: Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
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