知診 Gnosara
開始使用

遺傳檢驗科

學習遺傳性疾病的實驗室檢測：染色體核型與微陣列、單基因與全外顯子定序、產前與新生兒檢測、帶因者篩檢、變異致病性分類與檢測前後諮詢。

申請帳號機構導入洽詢

送出申請後由管理員開通，開通後以電子郵件通知。已有帳號？直接登入

適合哪些醫事職類

同一個主題，不同職業看到的題目與重點不同。以下是遺傳檢驗科各職類的學習焦點。

醫檢師

遺傳檢驗技術：細胞培養與中期染色體製備、G 帶染色與核型判讀、微陣列平台操作與 CNV 判定閾值、Sanger 定序與變異確認、NGS 建庫捕獲與覆蓋深度品管、WES/WGS 生物資訊流程與過濾條件、羊水與絨毛檢體處理與母源細胞污染排除、cfDNA 分離與胎兒分數計算、串聯質譜篩檢操作、重複序列擴增與粒線體異質性定量、ClinVar/gnomAD 資料庫比對、方法驗證與品保

醫檢師可學的其他科別 ›以醫檢師申請

醫師

遺傳檢驗判讀：核型與微陣列異常的臨床意義、CNV 與 VUS 的判讀策略、單基因病定序結果與表型對應、WES/WGS 的診斷率與次要發現處置、產前診斷適應症與侵入性檢查風險、NIPT 的偵測率與陽性預測值限制、新生兒篩檢陽性追診、帶因篩檢的殘餘風險溝通、遺傳性癌症基因的風險管理、ACMG/AMP 致病性分級應用、藥物基因體與用藥調整、罕病診斷路徑

醫師可學的其他科別 ›以醫師申請

護理師

檢測前後諮詢與採檢：遺傳檢測知情同意與檢測前說明、家族史與家系圖收集、羊膜穿刺與絨毛採樣的術前準備與術後觀察、NIPT 採血時機與失敗重抽、新生兒篩檢採血時機與濾紙血片品質、檢測結果告知的情緒支持與家屬轉介、次要發現與 VUS 的溝通配合、遺傳資訊隱私與家族揭露議題、帶因篩檢的伴侶追蹤安排、遺傳諮詢門診協調與後續追蹤

護理師可學的其他科別 ›以護理師申請

涵蓋的學習主題

共 14 個主題。展開可看每個主題的學習重點與依據的指引。

依據的臨床指引

本科別的學習內容依下列指引與文獻整理，著作權屬各原權利人。

  1. ACGS Best Practice Guidelines for Constitutional Karyotype Analysis and Targeted Chromosome Analysis v1.0｜ACGS｜2024
  2. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis＋ Technical standards for the interpretation and reporting of constitutional copy-number variants: joint consensus of ACMG and ClinGen｜ACMG／ACMG + ClinGen｜2013／2020
  3. Practice Guidelines for Targeted Next Generation Sequencing Analysis and Interpretation ＋ Practice Guidelines for Sanger Sequencing Analysis and Interpretation｜ACGS/CMGS｜2015／2016
  4. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the ACMG ＋ Whole-genome sequencing in health care: Recommendations of the ESHG｜ACMG／ESHG｜2021／2013
  5. Amniocentesis and Chorionic Villus Sampling — Green-top Guideline No. 8 (5th ed) ＋ ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis｜RCOG／ISUOG｜2021／2016
  6. Position statement from the ISPD on the use of non-invasive prenatal testing for detection of fetal chromosomal conditions in singleton pregnancies｜ISPD｜2023
  7. ISNS General Guidelines for Neonatal Bloodspot Screening 2025 ＋ Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories｜ISNS／Int J Neonatal Screening｜2025／2022
  8. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the ACMG｜ACMG｜2021
  9. EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer ＋ ACGS best practice guidelines for genetic testing and diagnosis of Lynch syndrome｜EMQN／ACGS｜2024／2016
  10. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of ACMG and AMP＋ ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024 v1.2｜ACMG + AMP／ACGS｜2015／2024
  11. Cascade counselling and testing. Recommendations of the ESHG ＋ Opportunistic genomic screening. Recommendations of the ESHG｜ESHG｜2026／2021
  12. Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from CPIC and DPWG ＋ CPIC Guideline for CYP2D6, ADRB1, ADRB2, ADRA2C, GRK4, GRK5 Genotypes and Beta-Blocker Therapy｜CPIC + DPWG／CPIC｜2020／2024
  13. Best Practice Guidelines for the Molecular Diagnosis of Mitochondrial Disease ＋ Practice Guidelines for Molecular Diagnosis of Fragile X Syndrome｜ACGS／ACGS/CMGS｜2020／2014
  14. Recommendations for whole genome sequencing in diagnostics for rare diseases ＋ Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease｜ESHG / EuroGentest／Human Mutation｜2022／2022

相關科別

分工相關的科別

影像、檢驗及病理科系的其他科別

影像、檢驗及病理科系介紹 ›　看全部科別 ›