测试ID:自由民主党
家族性自主神经异常，突变分析，IVS20(+6T>C)和R696P，各不相同

实验室开发的基于多重聚合酶链反应(PCR)的检测方法用于检测R696P变异IKBKAP (ELP1)基因:靶向Sanger测序用于检测IVS20(+6)T>C变异IKBKAP（ELP1)基因。（Fulton RJ, McDade RL, Smith PL, Kienker LJ, Kettman JR, Jr: Advanced multiplexed analysis with the FlowMetrix system. Clin Chem. 1997 Sep;43(9):1749-1756; Ye F, Li MS, Taylor JD, et al: Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identification. Hum Mutat. 2001 Apr;17[4]:305-316)

周二