Abstract：
The 270th ENMC workshop aimed to develop a common procedure to optimize the reliability of SMN2 gene copy number determination and to reinforce collaborative networks between molecular scientists and clinicians. The workshop involved neuromuscular and clinical experts and representatives of patient advocacy groups and industry. SMN2 copy number is currently one of the main determinants for therapeutic decision in SMA patients: participants discussed the issues that laboratories may encounter in this molecular test and the cruciality of the accurate determination, due the implications as prognostic factor in symptomatic patients and in individuals identified through newborn screening programmes. At the end of the workshop, the attendees defined a set of recommendations divided into four topics: SMA molecular prognosis assessment, newborn screening for SMA, SMN2 copies and treatments, and modifiers and biomarkers. Moreover, the group draw up a series of recommendations for the companies manufacturing laboratory kits, that will help to minimize the risk of errors, regardless of the laboratories\' expertise.
摘要：
第270届ENMC研讨会旨在开发一种通用程序，以优化SMN2基因拷贝数测定的可靠性，并加强分子科学家和临床医生之间的合作网络。研讨会涉及神经肌肉和临床专家以及患者倡导团体和行业的代表。SMN2拷贝数目前是SMA患者治疗决策的主要决定因素之一：参与者讨论了实验室在此分子测试中可能遇到的问题以及准确测定的重要性，由于在有症状的患者和通过新生儿筛查计划确定的个体中作为预后因素的影响。在研讨会结束时,与会者定义了一组建议，分为四个主题：SMA分子预后评估，新生儿SMA筛查，SMN2拷贝和处理，以及修饰剂和生物标志物。此外，该小组为制造实验室套件的公司起草了一系列建议，这将有助于最小化错误的风险，不管实验室的专业知识。
