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发明授权
CN105256051B 一种用于检测先天性巨结肠及相关综合征的致病/易感基因的探针组及试剂盒 有权

一种用于检测先天性巨结肠及相关综合征的致病/易感基因的探针组及试剂盒
摘要：
本发明提供一种用于检测先天性巨结肠及相关综合征的致病/易感基因的探针组及试剂盒，可最多同时检测172个疾病相关的致病/易感基因，可以为患病个体分子遗传学诊断、先天性巨结肠高发区人群普查、筛查先天性巨结肠家属中的发病高危人群以及进行相应的遗传咨询或产前干预提供参考。
摘要（英）：

The invention provides a probe set and a reagent kit used for detecting pathopoiesia/susceptibility genes of congenital megacolon and relative syndromes. At most 172 pathopoiesia/susceptibility genes related to diseases can be detected at the same time, and reference can be provided for affected individual molecular genetics diagnosis, mass survey of congenital megacolon high-incidence areas, screening of high-risk affected groups in congenital megacolon family members and corresponding genetic counseling or prenatal intervention.

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