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皮膚

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皮膚系統簡介:
        
皮膚系統由皮膚構成是人體11大功能系統之一,包圍在人體的外表面,起著保護身體不受外物侵害,保持體內環境穩定性的作用。目前在線孟德爾遺傳病數據庫(OMIM)已登錄的具有皮膚癥狀的遺傳病有1000多種,遺傳方式以常染色體顯性遺傳居多,約占皮膚系統單基因病的70%。遺傳性皮膚病的種類很多,約330種,其中250種主要表現為皮膚的異常,80種伴有皮膚異常的其他系統疾病。邁基諾針對皮膚系統疾病設計特異性的多基因捕獲方案,結合新一代基因分析技術,通過先進的生物信息學分析及權威疾病數據庫分析特定基因突變。該產品包含285種皮膚系統相關疾病或亞型,266個基因,為疾病分析、患病風險評估,早期預防提供科學依據。 
        皮膚系統相關基因分析的疾病包括大皰性表皮松懈癥、魚鱗病、外胚層發育不良、著色干皮病 、掌跖角化癥、先天性角化不良、心面皮膚綜合征、白化病以及一些其他皮膚系統的單基因遺傳疾病。
 

適用人群:
       1、疑難皮膚病的發現和鑒別。
       2、新生兒的皮膚疾病研究。
       3、有皮膚系統疾病、家族史、家族成員已患遺傳性皮膚系統疾病。 
       4、關注下一代健康的人群,進行孕前篩查和新生兒篩查。   

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