Genetic ataxia gene detection in a family by using second generation sequencing

By examining the common mutations of three patients in a family to diagnose diseases, and provide genetic counseling(such as the potential risk of offspring and reproductive decisions) for young family members. At the same time, early diagnosis is good for early targeted treatment intervention and delay disease progression.本数据集通过对某一家族中三名患者的常见基因突变进行检测以开展疾病诊断，并为该家族年轻成员提供遗传咨询服务，具体涵盖后代潜在患病风险与生育决策相关指导。同时，早期诊断有助于尽早实施靶向治疗干预，延缓疾病进展。