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神經系統

您的位置>首頁>遺傳檢測>神經系統>N023: SCA動態突變

產品簡介:
        脊髓小腦性共濟失調是以小腦性共濟失調為主要癥狀的常染色體顯性遺傳性疾病,病理改變以小腦、脊髓、腦干變性為主,主要特征為小腦性共濟失調,可伴有構音障礙、震顫、錐體束征以及癡呆等。 邁基諾針對脊髓小腦性共濟失調設計特異性的方案,分析特定基因突變。根據個體基因突變攜帶情況,從科學層面上為脊髓小腦性共濟失調患者提供可靠依據。SCA動態突變(SCA1,SCA2,SCA3,SCA6,SCA7,SCA8,SCA12,SCA17)。

技術優勢:
        1、獨立的設計專利:NGS+MygenoCap技術平臺,國內一家擁有獨立基因捕獲技術知識產權,可以自己不斷優化捕獲流程,也可以個性化定制捕獲試劑盒;
        2、強大的研發能力:不斷根據廣大研究者的需求研發出更貼近于遺傳疾病的
項目;
        3、精確的數據質量:基因捕獲深度可達200X,覆蓋度高度99% 以上;
        4、全面的分析結果:可一次性分析到單個堿基置換、堿基插入缺失、基因片段的缺失重復、染色體變異等,結果更全面準確。

技術流程:
EnrichmentChart2.jpg
圖1 神經系統疾病基因捕獲實驗流程
 
適用人群:
       1.不明或病因不明的脊髓小腦共濟失調。

        2.有家族史、家族成員已患病的其他人員。
        3.關注下一代健康的人群,進行孕前篩查和新生兒篩查。
        4.正常人群的健康體檢。

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