Y 染色体 AZoospermia Factor (AZF) 缺失检测是无精症和严重少精症男性诊断检查的关键组成部分。 2013 年欧洲男科学会 (EAA) 和 EMQN CIC（以前称为欧洲分子遗传学质量网络）实验室指南的修订总结了最近的临床相关进展，并提供了双方联合提供的外部质量评估计划结果的最新信息组织。基本的多重 PCR 反应和随后的缺失延伸分析仍然是检测和正确解释 AZF 缺失的金标准方法。最近的数据导致了 sY84 反向引物序列的更新，以及对先前被认为是 AZFa 和 AZFb 缺失断点的可互换边界标记的细化。更具体地说，不再建议将 sY83 和 sY143 用于缺失延伸分析，而将 sY1064 和 sY1192 分别作为首选标记。尽管目前一些国家正在向基于认证试剂盒的诊断过渡，但应该指出的是，由于测试标记物数量过多，目前不推荐使用这些商业产品中的许多产品，而且目前可用的产品中没有一个可以用于诊断。据我们所知，根据新的首选标记进行缺失延伸分析。 gr/gr 部分 AZFc 缺失仍然是精子生成受损的人群特异性危险因素和睾丸生殖细胞肿瘤的诱发因素。与以前一样，对这种缺失类型的测试由诊断实验室和转诊临床医生自行决定。 强烈鼓励每年参与外部质量控制计划，因为 EMQN/EAA 计划 22 年的经验清楚地表明诊断错误的急剧下降和报告实践的改进。
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EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023
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 reverse primer sequence, 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.
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