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【目的】了解我国目前新生儿遗传代谢病筛查(以下简称新筛)实验室葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)检测能力。【方法】参照中华人民共和国国家标准GB/T 20470-2006《临床实验室室间质量评价要求》,2011年分别向全国58家及70家新筛实验室邮寄2个批号(第1次)和5个批号(第2次)G6PD干血斑质控物,要求实验室回报G6PD定量测定结果(U/gHb)、临床判断(阴/阳性)、切值来源和切值信息,组织者对所有有效回报的结果进行统计分析,评价实验室检测水平。【结果】两次调查结果的回报率分别为86.2%(50/58)和74.3%(52/70)。以试剂进行分组,G6PD定量检测各批号离散度很大,试剂厂家1组和2组的7个批号变异系数较大,分别在10.67%～26.77%和69.17%～89.92%之间;稳健变异系数分布在5.38%～44.00%和102.37%～144.99%之间。两次G6PD临床判断调查可接受的百分比为91.7%和94.0%;而两次定量结果调查合格的百分比为53.7%和74.5%。【结论】本年度筛查实验室间调查结果的变异系数较大,G6PD定量测定结果的可接受率较低。通过开展全国新生儿遗传代谢病筛查G6PD质评计划来提高全国新筛实验室临床检测质量水平,保证新生儿遗传代谢性疾病工作质量,从而提高我国出生人口素质。
【Objective】 To understand the detection ability of glucose-6-phosphate dehydrogenase (G6PD) in neonatal screening of genetic metabolic diseases in our country. 【Method】 According to the requirements of the national standard GB / T 20470-2006, “Quality Assurance Laboratory Room for Clinical Laboratory”, two batch numbers (1st) were sent to 58 and 70 new screening laboratories nationwide in 2011 and 5 batches (2nd) G6PD dry blood spot control, requiring laboratory to report quantitative G6PD results (U / gHb), clinical judgment (negative / positive), cut-off source and cut-value information, Effectively return the results of statistical analysis, evaluation of laboratory testing. 【Results】 The returns of the two surveys were 86.2% (50/58) and 74.3% (52/70), respectively. With reagent grouping, G6PD quantitative detection of lot size dispersion is very large, reagent group 1 and 2 groups of seven lot number coefficient of variation larger, respectively, between 10.67% ~ 26.77% and 69.17% ~ 89.92%; robust coefficient of variation Distribution between 5.38% ~ 44.00% and 102.37% ~ 144.99%. The two acceptable G6PD judgments were 91.7% and 94.0%, respectively, while the two percentages were 53.7% and 74.5%, respectively. 【Conclusion】 This year, the coefficient of variation of the inter-laboratory screening results is large, and the acceptability of G6PD quantitative determination results is low. Through carrying out the national G6PD quality assessment program of genetic and metabolic disease screening to improve the national new screening laboratory clinical testing quality level, to ensure the quality of neonatal genetic metabolic disease work, so as to improve the quality of birth in our country.