Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2008)
Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2008)
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韩国诊断遗传学外部质量评估年度报告（2008）
DOI：
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发表时间：
2009
期刊：
影响因子：
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通讯作者：
E. Seo
中科院分区：
文献类型：
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作者：
Sun;C. Ki;B. Jeon;Seung;Eun;Jong;S. Park;Jae Seok Kim;You Kyung Lee;S. Kong;Seung Jung Ki;Sung;E. Seo
随着临床需求的增加，质量控制对急剧增长的基因检测的重要性继续得到强调。KSQACP诊断遗传学分会于2003年进行了两项细胞遗传学研究试验。33个实验室进行了细胞遗传学调查，大多数实验室的回答正确，除了一些问题的命名和分析FISH和复杂的细胞遗传学异常的肿瘤。分子遗传学检测调查包括M.结核病、HBV、HPV、白血病/淋巴瘤、ApoE基因分型、杜氏肌营养不良、肌阵挛性癫痫和粗糙的红色肌纤维以及脊髓和延髓肌萎缩。HPV、肌阵挛性癫痫和粗糙的红色肌纤维，以及脊髓和延髓肌萎缩是遗传调查的第一个挑战。分子遗传学调查显示，大多数参与者的HPV检测结果良好，但仍有少数实验室需要通过质量控制来提高HPV检测的质量。细胞遗传学分析室间质量评价计划可能有助于为参与者提供更多继续教育和有趣病例材料的机会。
The importance of quality control for dramatically growing genetic tests continues to be emphasized with increasing clinical demands. Diagnostic genetics subcommitee of KSQACP performed two trials for cytogenetic study in 2003. Cytogenetic surveys were performed by 33 laboratories and answered correctly in most laboratories except some problems in nomenclature and analysis for FISH and complex cytogenetic abnormalities in neoplasia. The molecular genetic test surveys include M. tuberculosis, HBV, HPV, leukemia/lymphoma, ApoE genotyping, Duchenne muscular dystrophy, myoclonic epilepsy and ragged red muscle fibers, and spinal and bulbar muscular atrophy. HPV, myoclonic epilepsy and ragged red muscle fibers, and spinal and bulbar muscular atrophy were the first challenge of the genetic survey. Molecular genetic survey showed excellent results in most participants, however, HPV tests should be improved by quality control in a few laboratories. External quality assessment program for cytogenetic analysis could be helpful to give participants many chances of continuous education and of interesting case materials.