Uphoff Timothy S, Highsmith W Edward
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Clin Lab Sci. 2006 Winter;19(1):24-31.
Technology improvements are rapidly bringing molecular diagnostics into routine laboratories. Recent recommendations for cystic fibrosis carrier testing by the American College of Medical Genetics (ACMG) have led to commercial test kit development and increased testing volumes. Molecular testing of genetic diseases presents a variety of challenges and situations that may be unfamiliar to laboratories with limited molecular genetic experience. We will briefly review the disease and discuss mutation testing indications, methodologies, quality assurance, and reporting issues associated with cystic fibrosis testing.
技术进步正迅速将分子诊断带入常规实验室。美国医学遗传学学会（ACMG）近期关于囊性纤维化携带者检测的建议已促使商业检测试剂盒的开发，并增加了检测量。对遗传疾病进行分子检测带来了各种挑战和情况，这对于分子遗传学经验有限的实验室来说可能并不熟悉。我们将简要回顾该疾病，并讨论与囊性纤维化检测相关的突变检测指征、方法、质量保证及报告问题。
