基因分子診斷實驗室

**自費醫療項目依照本院自費醫療收費標準規定收費**
醫令碼	檢測名稱	英文名	價格
000X0238	全新設計已知基因變異單一位點檢測【此為針對已有明確之基因變異位點進行檢測，非單基因檢驗】	Brand New Designed Genetic Testing For An Untested Variant	2,840
000X0227 (掛號點我)	次世代定序疾病基因突變檢測—大範圍 (須註明檢驗疾病項目) 嗜鉻細胞瘤及副神經纖維瘤胸部主動脈剝離症候群進行性家族性肝內膽汁滯留症阿拉及歐症候群遺傳性視網膜失養症 (182個基因) 多囊性肝病變神經退化性疾病聽損 (217個基因) 多囊性腎病變黃疸	Next-Generation Sequencing Genetic Test - Large Range Pheochromocytoma & Paraganglioma Thoracic aortic aneurysm and dissection syndrome Progressive family intrahepatic cholestasis Alagille syndrome Hereditary retinal dystrophy (182 genes) Polycystic liver disease Neurodegenerative diseases Deafness (217 genes) Polycystic kidney disease Jaundice	30,000
000X0229 (掛號點我)	次世代定序疾病基因突變檢測—大範圍—結節硬化症	NGS genetic test - Large range - Tuberous Sclerosis Complex (TSC)	30,000
000X0244 (掛號點我)	次世代定序疾病基因突變檢測—中範圍 (須註明檢驗疾病項目) 神經纖維瘤遺傳性視網膜失養症 (21個基因) 酵素缺乏所致之先天性甲狀腺低能症原發性腎上腺巨結節增生症紫質症	Next-Generation Sequencing Genetic Test - Middle Range Neurofibromatosis Hereditary retinal dystrophy (21 genes) Thyroid dyshormonogenesis Primary macronadular adrenal hyperplasia Porphyria	17,000
000X0245 (掛號點我)	次世代定序疾病基因突變檢測—小範圍 (須註明檢驗疾病項目) 聽損 (30個基因) 家族性高膽固醇脂血症甲狀腺髓質癌多發性內分泌腫瘤第一型基因檢測多發性內分泌腫瘤第二型基因檢測偽副甲狀腺功能低下症基因檢測甲狀腺賀爾蒙阻抗症候群先天性腎上腺增生症年輕型中風惡性高熱症逢希伯-林道症候群非典型先天性腎上腺增生症	Next-Generation Sequencing Genetic Test - Small Range Deafness (30 genes) Familial hypercholesterolemia Medullary thyroid cancer Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2 Medullary thyroid cancer Pseudohypoparathyroidism Thyroid hormone resistance CAH due to 21-hydroxylase deficienc Cerebral small vessel disease Malignant hyperthermia Von Hippel–Lindau disease Atypical CAH	8,260
000X0250 (掛號點我)	次世代定序遺傳性癌症症候群基因檢驗 [ 次世代定序卵巢癌、攝護腺癌(BRCA與HR)基因檢驗 ]	NGS for Hereditary Cancer Syndromes associated Gene Variant Test [ NGS for ovarian and prostate cancer (BRCA and HR genes) ]	30,000
000X0252 (掛號點我)	次世代定序疾病基因突變檢測—中範圍 (癲癇專用)	NGS genetic test - Middle range - Epilepsy	10,000 【自2024年1月1日始，價格調整為12,000元。】
000X0253 (掛號點我)	次世代定序癌症藥物基因檢驗	Next-generation sequencing for gene test of cancer medication	38,500
000X0267 (掛號點我)	次世代定序遺傳基因全表現子檢測 (MGD實驗室)	NGS genetic test-Germline WES (Lab of MGD)	30,000
000X0268 (掛號點我)	次世代定序遺傳基因全基因組檢測 (MGD實驗室)	NGS genetic test-Germline WGS (Lab of MGD)	50,000

檢驗項目及費用