表皮分解性水皰症精準檢測套組
表皮分解性水皰症精準檢測套組（Epidermolysis Bullosa）是一群由多種遺傳性水皰症所組成的疾病，其特徵是皮膚脆弱，皮膚和粘膜因輕微創傷而起泡。
概述
- 表皮分解性水皰症精準檢測套組（Epidermolysis Bullosa）是一群由多種遺傳性水皰症所組成的疾病，其特徵是皮膚脆弱，皮膚和粘膜因輕微創傷而起泡。雖然在臨床上和遺傳上非常不同，但根據發生水皰的皮膚層，它被分為四種主要類型：單純型表皮分解性水皰症、接合型表皮分解性水皰症、失養型表皮分解性水皰症和 金德勒氏表皮分解性水皰症。臨床異質性源於水皰的不同分佈、皮膚病變的嚴重程度和皮外體徵。症狀通常發生在出生時或出生後不久，其遺傳模式為體染色體顯性和隱性。
- Igenomix表皮分解性水皰症精準檢測套組可用於對水皰進行準確和直接的鑑別診斷，以便進行更好的疾病管理和預後。本檢測使用次世代定序 （NGS）技術，對此疾病相關的基因進行全面分析，以充分了解相關基因的受影響程度。
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