摘要分子诊断近年来发展迅速，应用于遗传性疾病的诊断、感染性病原体检测、肿瘤易感基因检测与分子分型、伴随诊断和预后评估等领域，在疾病的诊断和治疗中发挥越来越重要的作用。我国从20世纪80年代起开展分子检测，目前应用于临床的分子诊断技术主要有流式细胞术、荧光原位杂交、定量 PCR、微阵列芯片和 DNA 测序等。分子诊断技术弥补了常规检验的不足，将现代检验医学推向了新的高度。随着转化医学的不断发展，未来将有更多的分子诊断技术走向临床。但我国目前分子诊断存在地区发展不平衡、相关政策不配套、实验室建设不规范、质量监督不完善等问题，需要政府、医院、专业协会和实验室共同努力，促进其健康规范发展。

abstractsMolecular diagnosis is rapidly developed in recent years , mainly applicated in the diagnosis of hereditary disease , infectious pathogens, tumor susceptibility and molecular typing , companion diagnosis and prognosis assessment , playing more and more important role in many diseases diagnosis and treatment.Molecular diagnosis was developed from the eighties of the last century in our country .Nowadays, the mainly applied technologies in the clinical laboratory include fluorescence in situ hybridization , quantitative PCR, microarray and DNA sequencing. These molecular technologies make up for the insufficiency of routine testing and take up a central role in the development of modern laboratory medicine . With the continuous development in transformation research of molecular technology recent years , there will be more molecular diagnostic techniques applied in clinicaldiagnosis in the future .But it still exists some drawbacks in the performance of molecular diagnosis in our country according to the current situation , such as imbalanced regional development , mismatched policies, non-standardized laboratory construction , deficiency of quality control and supervision , etc., which requires the joint effort of the government , hospital, professional association and clinical laboratory itself to promote the healthy and orderly development of molecular diagnosis.