Molecular diagnostics as the centrepiece of precision oncology has gone through revolutionary developments over the last decade, becoming tremendously broad, deep and precise with still ongoing advancements. In the majority of scenarios, treatment selection for cancer patients without any type of molecular characterization is no longer conceivable. Considering the impact of sample quality on the reliability of molecular analyses and the importance of the results for the fate of an individual patient, it is surprising how sparsely preanalytical and analytical requirements are addressed scientifically. Standardization and rigorous quality assessment continue to play only a marginal role in the field. Within this review, we will systematically discuss influencing preanalytic parameters and technology setups affecting molecular test results. We will shed light on the specifics of different analytes, technical modalities, and analysis pipelines. The review will have a certain focus on broad molecular genetic tumour testing with next generation sequencing but will go beyond that including other molecular diagnostic modalities and will give a glimpse into the future of molecular testing.

分子诊断作为精准肿瘤学的核心，在过去十年中经历了革命性的发展，变得非常广泛、深入和精确，并且仍在不断进步。在大多数情况下，无法再为没有任何类型分子特征的癌症患者选择治疗方案。考虑到样本质量对分子分析可靠性的影响以及结果对个体患者命运的重要性，令人惊讶的是，如何科学地解决分析前和分析要求的稀疏性。标准化和严格的质量评估在该领域继续只发挥边际作用。在这篇综述中，我们将系统地讨论影响分子测试结果的分析前参数和技术设置。我们将阐明不同分析物、技术模式和分析管道的细节。该审查将重点关注使用下一代测序的广泛分子遗传肿瘤检测，但将超越包括其他分子诊断方式的范围，并将让我们一窥分子检测的未来。