Guidelines for molecular karyotyping in constitutional genetic diagnosis
Guidelines for molecular karyotyping in constitutional genetic diagnosis
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DOI：
10.1038/sj.ejhg.5201896
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发表时间：
2007-11-01
影响因子：
5.2
通讯作者：
Zuffardi, Orsetta
中科院分区：
文献类型：
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作者：
Vermeesch, Joris Robert;Fiegler, Heike;Zuffardi, Orsetta
基于阵列的全基因组研究或分子核型分析使得能够在全基因组范围内检测亚微观不平衡。原理证明实验已经证明，分子核型分析在检测染色体不平衡方面优于常规核型分析。本文确定了技术似乎已经成熟的领域以及需要更多调查的领域。分子核型分析应该是发育障碍患者遗传学诊断的一部分。对于其他体质适应症和产前诊断技术的实施，更多的研究是适当的。此外，本文的目的是提供最佳实践指南的应用阵列比较基因组杂交，以确保技术和临床质量标准，将优化和优化的结果和报告，在诊断实验室。简而言之，每个提供诊断测试的实验室都应该评估阵列的特异性和灵敏度。迫切需要内部和外部质量控制计划来评估和验证实验室之间的测试结果。
Array-based whole genome investigation or molecular karyotyping enables the genome-wide detection of submicroscopic imbalances. Proof-of-principle experiments have demonstrated that molecular karyotyping outperforms conventional karyotyping with regard to detection of chromosomal imbalances. This article identifies areas for which the technology seems matured and areas that require more investigations. Molecular karyotyping should be part of the genetic diagnostic work-up of patients with developmental disorders. For the implementation of the technique for other constitutional indications and in prenatal diagnosis, more research is appropriate. Also, the article aims to provide best practice guidelines for the application of array comparative genomic hybridisation to ensure both technical and clinical quality criteria that will optimise and standardise results and reports in diagnostic laboratories. In short, both the specificity and the sensitivity of the arrays should be evaluated in every laboratory offering the diagnostic test. Internal and external quality control programmes are urgently needed to evaluate and standardise the test results between laboratories.