Abstract: We discussed the important role of gene detection in the field of rehabilitation medicine by enumerating 2 children with genic mutation，and concluded that clinical use of genetic testing technology can improve the diagnostic accuracy，and contribute to treatment as well as prognosis evaluation.Therefore，we suggested that genetic testing can be performed when necessary based on the comprehensive analysis of the patient's clinical symptoms，signs and laboratory findings，in order to make an accurate diagnosis，deliver precise medical care and evaluate the prognosis for such patients，

Key words: Genetic testing, Mutation, Rehabilitation, Precision medicine

摘要： 通过回顾性分析2例罕见基因突变患儿的诊疗经过，探讨基因检测在康复医学领域中的重要作用；指出基因检测技术不仅能够帮助临床医生对疾病做出更精确的诊断，也能够在治疗方面发挥指导作用，准确判断患儿预后。因此，建议医生在临床工作中对患儿的临床症状、体征及其他实验室检测指标要综合分析，必要时结合基因检测技术以明确诊断、指导治疗及预后评估。

关键词: 基因检测, 突变, 康复, 精准医疗