原發性小頭畸形症精準檢測套組
小頭畸形症（Microcephaly）一般定義為頭小，使用量尺測量頭圍，通常比正常值小兩個標準差。小頭畸形症是一種臨床症狀而不是疾病。
簡介
- 小頭畸形症（Microcephaly）一般定義為頭小，使用量尺測量頭圍，通常比正常值小兩個標準差。小頭畸形症是一種臨床症狀而不是疾病。由於顱骨縫隙過早融合導致形狀異常並使頭圍增長受限，後續可能導致長期的神經系統後遺症。小頭畸形症的原因可分為兩類，其一為顱縫過早融合，也稱為顱縫早閉或大腦發育不良。遺傳疾病是造成小頭畸形症的病因之一，包括21 號三套染色體、 18 號三套染色體、13 號三套染色體、貓哭症候群，威廉氏症候群等。此外，先天性代謝異常、破壞性傷害和母愛缺乏等問題也會導致小頭畸形症。原發性小頭畸形症通常為體染色體隱性遺傳。
- Igenomix 原發性小頭畸形症精準檢測套組可對病患進行遺傳診斷，以便對該病症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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