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代謝系統

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產品簡介:
        糖原貯積癥,主要是因為先天性糖代謝酶缺陷所造成的糖原代謝障礙而引起的疾病,主要分為肝型糖原生成病和肌型糖尿累積病兩類和多種亞型,遺傳方式為大多為常染色體隱性遺傳疾病。
        邁基諾糖原貯積癥基因分析是利用目標區域捕獲與新一代
基因分析技術,對糖原貯積癥多種亞型相關基因區域進行分析和生物信息學分析,結合病史、癥狀表現,可在早期篩查出糖原貯積癥疾病的患者。邁基諾通過與專家攜手,針對糖原貯積癥多種亞型的亞型設計特異性的多基因捕獲方案,結合新一代基因分析技術和先進的生物信息學分析,分析特定基因突變。根據個體基因突變攜帶情況,從科學層面上為眼科疾病患者提供可靠依據。
 
 
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
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:可一次性檢測到單個堿基置換、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:
    
圖1 糖原貯積癥系統疾病基因捕獲序列分析實驗流程
 
適用人群:
       1、早期發現致病基因,及早采取干預措施,降低發病率;
        2、輔助專家,制定合理的后續方案;
        3、明確家族中其他致病基因攜帶者;
        4、為亞健康人群及健康人群進行風險預測和評估,提供后期的預防保健咨詢;
        5、關注下一代健康的人群,進行孕前和新生兒篩查。

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