Technical standards and guidelines: Molecular genetic testing for ultra-rare disorders
Technical standards and guidelines: Molecular genetic testing for ultra-rare disorders
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DOI：
10.1097/01.gim.0000182738.95726.ca
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发表时间：
2005-10-01
影响因子：
8.8
通讯作者：
Richards, S
中科院分区：
文献类型：
--
作者：
Maddalena, A;Bale, S;Richards, S
这些标准和指南主要是为临床实验室遗传学家提供教育资源，帮助他们提供高质量的临床实验室遗传学服务。遵守这些标准和指南并不一定能确保成功的医疗结果。这些标准和指南不应被视为包括所有适当的程序和测试，或排除合理地旨在获得相同结果的其他程序和测试。在确定任何特定程序或测试的适当性时，临床分子遗传学家应将他或她自己的专业判断应用于个别患者或标本所呈现的特定临床情况。然而，在实验室记录中记录任何与这些标准和指南有重大偏离的理由可能是谨慎的。
These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical molecular geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the laboratory record the rationale for any significant deviation from these standards and guidelines.