麥克爾-格魯伯症侯群精準檢測套組
麥克爾-格魯伯症侯群（MKS）是一種致死性的體染色體隱性神經發育疾病，其特徵是具有枕部腦膨出、巨大的多囊性腎臟和軸後多指症的三大症狀。
簡介
- 麥克爾-格魯伯症侯群（MKS）是一種致死性的體染色體隱性神經發育疾病，其特徵是具有枕部腦膨出、巨大的多囊性腎臟和軸後多指症的三大症狀。它是由於負責維持初級纖毛的結構和功能正常的蛋白質出現基因突變引所起的。本疾病屬於一群稱為纖毛症的疾病，由於纖毛存在於人體的各種器官中，病患還會出現一些其他病徵。相關的異常包括口裂、生殖器異常、中樞神經系統變異和肝臟纖維化。病患死亡的主因是肺臟發育不全。
- Igenomix 麥克爾-格魯伯症侯群精準檢測套組可用於進行精準並定向的診斷，以便對該疾病進行更好的管理並達成更好的預後。本檢測利用次世代定序（NGS）對此疾病的相關基因進行全面分析，以充分了解相關基因的受影響程度。
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