Hertzberg M, Neville S, McDonald D
The Royal College of Pathologists of Australasia Quality Assurance Programs, Institute of Clinical Pathology and Medical Research, Westmead Hospital, New South Wales, Australia.
J Clin Pathol. 2006 Jul;59(7):744-7. doi: 10.1136/jcp.2005.026005. Epub 2006 May 5.
The Royal College of Pathologists of Australasia Quality Assurance Programs has conducted an external quality assurance programme for the testing of the haemochromatosis gene (HFE) mutations C282Y and H63D.
A total of 10 surveys have been undertaken over a period of 6 years from 2000 to 2005.
Of the 3016 responses received, the overall success rate was found to be 99.47% (3000/3016). A total of 16 errors were found, 6 for C282Y and 10 for H63D. Only one sample was associated with more than one error, in which 2 of 23 respondents classified a normal sample as heterozygotic for H63D. Overall performance was observed to vary minimally between surveys, from a low of 91.3% correct (21/23 responses) for a normal sample to 100% correct in most (85/100) samples. Of the 10 complete surveys, four returned a 0% error rate. In one survey in 2004, seven incorrect responses were returned by one laboratory, all of which were secondary to transcriptional errors. Overall success rates per assay were 99.61% (1532/1538) for C282Y and 99.32% (1468/1478) for H63D. Over a period of 6 years from 2000 to 2005, the proportion of respondents using polymerase chain reaction (PCR) and restriction enzyme analysis fell from 85% to around 30%, whereas the proportion of laboratories using real-time PCR rose from 5% to around 55%, as indicated by the questionnaire surveys of methods used by participants.
Encouraging levels of testing proficiency for two common genetic mutations are indicated by these data, but they also confirm the need for participation of molecular diagnostic laboratories in external quality assurance programmes to ensure the ongoing provision of high-quality genetic testing services.
澳大利亚皇家病理学家学会质量保证项目开展了一项针对血色素沉着症基因（HFE）突变C282Y和H63D检测的外部质量保证计划。
从2000年到2005年的6年间共进行了10次调查。
在收到的3016份回复中，总体成功率为99.47%（3000/3016）。共发现16处错误，C282Y有6处，H63D有10处。只有一个样本出现了不止一处错误，在23名受访者中，有2人将一个正常样本分类为H63D杂合子。观察到各次调查的总体表现差异极小，正常样本的最低正确率为91.3%（21/23份回复），大多数样本（85/100）的正确率为100%。在10次完整调查中，有4次的错误率为0%。在2004年的一次调查中，一个实验室返回了7份错误回复，均为转录错误所致。C282Y每次检测的总体成功率为99.61%（1532/1538），H63D为99.32%（1468/1478）。根据参与者所使用方法的问卷调查显示，从2000年到2005年的6年间，使用聚合酶链反应（PCR）和限制性酶切分析的受访者比例从85%降至约30%，而使用实时PCR的实验室比例从5%升至约55%。
这些数据表明两种常见基因突变的检测熟练度水平令人鼓舞，但也证实了分子诊断实验室需要参与外部质量保证计划，以确保持续提供高质量的基因检测服务。
