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跨院代檢項目

醫​令​碼 中文名稱 英文名稱  自費價格 
000X0002 小兒代謝遺傳疾病檢查(MS/MS) Test for inborn errors of metabolism     2,000
000X0055 芳香族L-胺基酸脫羧酵素缺乏症基因分析 (Aromatic L-amino Acid Decarboxylase)AADC Deficiency    11,500
000X0123 基因分析 Level1 Genetic Analysis Level 1     1,500
000X0124 基因分析 Level2 Genetic Analysis Level 2     3,000
000X0125 基因分析 Level3 Genetic Analysis Level 3     8,000
000X0126 基因分析 Level4 Genetic Analysis Level 4    15,000
000X0131 粒線體疾病:點突變1555 Mitochondria nt1555 mutation(Deafness)       560
000X0132 粒線體疾病:點突變3243 Mitochondria nt3243 mutation(MELAS)       560
000X0133 粒線體疾病:點突變8344 Mitochondria nt8344 mutation(MERRF)       560
000X0134 粒線體疾病:點突變8993 Mitochondria nt8993 mutation(Leigh)       560
000X0135 粒線體疾病:點突變11778 Mitochondria nt11778 mutation(LHON)       560
000X0136 脊髓小腦性共濟失調 Spinocerebellar Ataxia type Ⅰ,Ⅱ,Ⅲ     2,000
000X0137 齒狀紅核蒼白球萎縮症 Dentato-rubro-pallido-luysian atrophy     1,000
000X0138 脊髓小腦性共濟失調第17型 Spinocerebellar Ataxia type ⅩⅦ     1,000 
000X0139 脊髓小腦性共濟失調第6型 Spinocerebellar Ataxia type Ⅵ     1,000
000X0140 亨丁頓舞蹈症 Huntington Disease     2,000
000X0145 粒線體疾病:點突變10191 Mitochondria nt10191 mutation(Leigh)       560
000X0146 粒線體疾病:點突變13513 Mitochondria nt13513 mutation(MELAS)       560
000X0147 甘迺迪氏症基因篩檢 Kennedy's Disease Genetic Test     1,000
000X0148 粒線體疾病點突變套組 Mitochondria Disease Mutation Hot Spots Panel     3,300
000X0149 粒線體疾病:點突變14484 Mitochondrial nt14484 mutation(LHON)       560
000X0150 粒線體疾病:點突變3460 Mitochondrial nt3460 mutation(LHON)       560
000X0152 粒線體去氧核醣核酸大片段缺失(4977bp缺失) Mitochondrial DNA large deletion(4977bp deletion)       520
​​​000X0153 嚴重複合型免疫缺乏症 SCID Newborn Screening       150
000X0155 粒線體D​NA拷貝數目分析 MtDNA copy number quantification test     2,500
000X0156 粒線體DNA nt3243 A>G定量分析 MtDNA  nt3243 A>G quantification test     2,500
000X0157 生物素症新生兒篩檢 Neonatal Screening of Biotinidase Disease       100
000X0175 腎上腺腦白質失養症(ALD)篩檢 Screening for Adrenoleukodystrophy       240
000X0176 晚發型龐貝氏症篩檢(限1歲以上使用) Screening for late-onset Pompe disease (>1 years old )       800 
000X0177 ​(限男性)法布瑞氏症篩檢(限7歲以上使用) (Male) Screening for Fabry disease (>7 years old)       800
000X0178 尿中葡萄糖四醣檢驗 Urine Glc4 test     2,000
000X0179 Lyso-Gb3檢驗 (法布瑞氏症追蹤和帶因者檢查) Lyso-Gb3 test (follow-up and carrier of Fabry disease)     1,200
000X0180 氧化膽固醇檢驗 (尼曼匹克症排除和追蹤)) Oxysterol test (R/O and follow-up of Niemann-Pick disease)     2,000
000X0183 高雪氏症篩檢(限1歲以上使用) Screening for Gaucher disease        800
(>1 years old )
000X0214 龐貝氏症篩檢 Screening for Pompe Disease       200
000X0215 甲基丙二酸 Methylmalonic Acid       400
000X0219 琥珀醯丙酮 Succinylacetone       500
000X0206 基因分析 Level 5 Genetic Analysis Level 5    20,000
000X0207 核酸製備 DNA Extration       500
000X0239 次世代定序粒線體DNA基因變異檢測 Next Generation Sequencing for Mitochondrial DNA Variation Test    25,000
000X0241 次世代定序骨骼關節疾病相關基因變異檢測 Next Generation Sequencing – Bone and joint diseases associated genes variation test (OI, EDS, Marfanoid)    30,000
000X0242 次世代定序代謝性疾病相關基因變異檢測 Next Generation Sequencing – Metabolic diseases associated genes variation test (LSD, NCL, channopathy)    30,000
000X0243 次世代定序神經肌肉疾病相關基因變異檢測 Next Generation Sequencing – Neuromuscular diseases associated genes variation test (LGMD, CMT, FAOD)    30,000
000X0247 次世代定序兒童心臟相關基因變異檢測 Next Generation Sequencing - Pediatric Cardiovascular disease (Channopathy, Cardiomyoapthy, Pulmonary hypertension)    30,000
12150B0D 血漿胺基酸定量檢查 Plasma Amino Acid Analysis     2,600
12194B00 代謝產物串聯質譜儀檢查(陽性追蹤使用) Tandem Mass Analysis of Metabolites       650
09089B0D 尿液有機酸檢查(每次需加CRE-09015C予校正) Urine Organic Acid analysis     2,340
000D11​13 生物素酵素缺乏症全基因分析 Biotinidase Deficiency Genetic Assay     5,500
000X0218 MSI分子基因檢查 Microsatellite instability DNA analysis     5,000
000X0221 甲狀腺髓質癌基因檢測(有家族史) Medullary Thyroid Cancer (MTC) Genetic Test(family history)     3,500
000X0222 多發性內分泌腫瘤第二型基因檢測 Multiple Endocrine Neoplasia,Type2(MEN2)Genetic Test     3,500
000X0223 偽副甲狀腺功能低下症基因檢測 Pseudohypoparathyroidism(PTH) Genetic Test     7,000
000X0224 單一已知基因變異位點檢測 Genetic Test of single known genetic variant     1,500
000X0227 次世代定序疾病基因突變檢測 Next-Generation Sequencing Genetic Test - Large Range    30,000
000X0228 多發性內分泌腫瘤第一型基因檢測 Multiple Endocrine Neoplasia,Type1(MEN1) Genetic Test     7,000
000X0229 次世代定序結節硬化症基因突變檢測 Next Generation Sequencing for Tuberous Sclerosis Complex associated Gene Mutation Test    30,000
000X0233 次世代定序神經退化性疾病相關基因突變檢測 Next Generation Sequencing for Neurodegenerative Diseases Associated Genes Mutation Test    30,000
000X0234 次世代定序聽損基因突變檢測 Next Generation Sequencing for Deafness Gene Mutation Test    30,000
000X0235 甲狀腺髓質癌基因檢測(無家族史) Medullary Thyroid Cancer (MTC) Genetic Test (no family history)     6,000
000X0236 次世代定序多囊性腎病變相關基因變異檢測 Next Generation Sequencing for PKD Associated Genes Variation Test    30,000
000X0237 次世代定序黃疸相關基因變異檢測 Next Generation Sequencing for Jaundice Associated Genes Variation Test    30,000
000X0238 全新設計已知基因變異單一位點檢測 Brand New Designed Genetic Testing For An Untested Variant     2,840
000X0240 全面性次世代定序與Sanger定序161個耳聾相關基因突變檢測 Comprehensive Next Generation Sequencing and Sanger Sequencing for Deafness Associated Genes Mutation Test(161genes)    48,000
000X0244 次世代定序疾病基因突變檢測—中範圍 Next-Generation Sequencing Genetic Test - Middle Range    15,080
000X0245 次世代定序疾病基因突變檢測—小範圍 Next-Generation Sequencing Genetic Test - Small Range     7,060
000X0250 次世代定序遺傳性癌症症候群基因檢驗 NGS for Hereditary Cancer Syndromes associated Gene Variant Test    30,000
000X0252 次世代定序疾病基因突變檢測—中範圍(癲癇專用) Next-Generation Sequencing Genetic Test -Middle Range (for Epilepsy) ​    10,000