对Y染色体AZoospermia因子（AZF）缺失的检测是无精子症和严重少精子症男性的诊断过程中的关键组成部分。这份由2013年欧洲男性学会（EAA）和EMQN CIC（以前称为欧洲分子遗传学质量网络）实验室指南修订的文章总结了最近的临床相关进展，并提供了两个组织联合提供的外部质量评估计划的结果更新。基本多重PCR反应后跟一个缺失扩展分析仍然是检测和正确解释AZF缺失的黄金标准方法。最近的数据导致sY84引物序列的更新，以及对以前被认为是可互换的AZFa和AZFb缺失断点的边界标记的细化。更具体地说，不再推荐使用sY83和sY143进行缺失扩展分析，将分别使用sY1064和sY1192作为首选标记。尽管多个国家目前正在向基于认证试剂盒的诊断方法转变，但应注意的是，由于被检测标记的数量不必要地过高，目前市场上的许多商业产品都不被推荐使用，我们目前所知的这些产品都不符合缺失扩展分析的新首选标记要求。gr/gr部分AZFc缺失仍然是导致精子产生障碍和睾丸生殖细胞肿瘤易感因素的特定群体风险因素。对于这种缺失类型的检测仍然由诊断实验室和转诊临床医生自行决定。强烈鼓励参加外部质量控制计划的年度参与，因为EMQN/EAA计划的22年经验清楚地表明诊断错误的陡峭下降和报告实践的改进。© 2023 The Authors. 由Wiley Periodicals LLC代表美国男性学学会和欧洲男性学会发表。

Testing for AZoospermia Factor (AZF) deletions of the Y chromosome is a key component of the diagnostic workup of azoospermic and severely oligozoospermic men. This revision of the 2013 European Academy of Andrology (EAA) and EMQN CIC (previously known as the European Molecular Genetics Quality Network) laboratory guidelines summarizes recent clinically relevant advances and provides an update on the results of the external quality assessment program jointly offered by both organizations. A basic multiplex PCR reaction followed by a deletion extension analysis remains the gold-standard methodology to detect and correctly interpret AZF deletions. Recent data have led to an update of the sY84 primer sequences, as well as to a refinement of what were previously considered as interchangeable border markers for AZFa and AZFb deletion breakpoints. More specifically, sY83 and sY143 are no longer recommended for the deletion extension analysis, leaving sY1064 and sY1192, respectively, as first-choice markers. Despite the transition, currently underway in several countries, toward a diagnosis based on certified kits, it should be noted that many of these commercial products are not recommended due to an unnecessarily high number of tested markers, and none of those currently available are, to the best of our knowledge, in accordance with the new first-choice markers for the deletion extension analysis. The gr/gr partial AZFc deletion remains a population-specific risk factor for impaired sperm production and a predisposing factor for testicular germ cell tumors. Testing for this deletion type is, as before, left at the discretion of the diagnostic labs and referring clinicians. Annual participation in an external quality control program is strongly encouraged, as the 22-year experience of the EMQN/EAA scheme clearly demonstrates a steep decline in diagnostic errors and an improvement in reporting practice.© 2023 The Authors. Andrology published by Wiley Periodicals LLC on behalf of American Society of Andrology and European Academy of Andrology.