The genome functions as the fundamental operating system of human life, while single-gene genetic diseases represent high-risk 'syntax errors' within this code. This report utilizes 30X High-Depth Whole Genome Sequencing (WGS) to perform a comprehensive scan of your genome. This technology not only covers common variants but also precisely captures rare pathogenic signals of significant clinical importance that are easily overlooked, providing you with an interpretation of profound medical precision.
基因組是人體生命活動的底層作業系統，而單基因遺傳病則是該代碼中極具風險的‘語法錯誤’。本報告採用 30X 高深度全基因組定序 （WGS），對您的基因組進行了全面掃描。這一技術不僅覆蓋常見變異，更能精準捕捉那些易被遺漏的、具有重要臨床意義的罕見致病信號，為您提供具有醫學深度的精準解讀。
Based on ICD-10 Standards (基於 ICD-10 標準分類)
Actionable Finding Detected (檢測到可採取行動的發現)
| Gene (基因) | HGVSc (HGVSp) | Zygosity (合子狀態) | Classification (分類) |
|---|---|---|---|
| ATP7B | c.1543+406>A | Heterozygous 雜合子 |
Likely Pathogenic (可能致病) |
The variant c.1543+406>A is an intronic variant in the ATP7B gene. ClinVar classifies this as Likely Pathogenic. It is predicted to disrupt normal splicing, leading to impaired copper transport.
變異 c.1543+406>A 是 ATP7B 基因中的一個內含子變異。ClinVar 將其分類為可能致病。預計它會破壞正常的剪接，導致銅轉運受損。
Wilson Disease is a disorder of copper metabolism. As this is an autosomal recessive condition and you are a heterozygous carrier, you are not expected to develop symptoms.
威爾森氏症是一種銅代謝障礙疾病。由於這是一種常染色體隱性遺傳病，且您是雜合子攜帶者，預計您不會出現症狀。