健保有給付項目依『全民健康保險醫療費用支付標準』規定收費，未給付項目依本院自費醫療收費標準規定收費
| 醫令代碼 | 醫令中文名稱 | 醫令英文名稱 | 自費價 |
|---|---|---|---|
| 000X0002 | 小兒代謝遺傳疾病檢查 | Test for inborn errors of metabolism | 2,000 |
| 000X0006 | 新生兒篩檢（門診） | Newborn screening | 1,030 |
| 000X0015 | 新生兒篩檢11項（住院）－一般個案 | Newborn screening(partially-paid) | 830 |
| 000X0016 | 血緣鑑定 | Paternity test | 8,000 |
| 000X0034 | 纖維芽母細胞培養 | Fibroblast culture | 3,500 |
| 000X0036 | 資料處理及郵寄報告手續費 | Mail fee | 500 |
| 000X0052 | 新生兒篩檢11項（住院）－無補助 | Newborn screening(self-paid) | 1,030 |
| 000X0053 | 新生兒篩檢11項（住院）－低收入戶或原住民 | Newborn screening(the minority) | 480 |
| 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 |
| 000X0102 | 羊膜細胞培養及染色體分析 | Amniotic Fluid Cell Culture & Chromosome Analysis | 6,500 |
| 000X0103 | 超音波掃瞄,羊膜穿刺術 | Sonagraphy for amniocentensis | 3,500 |
| 000X0105 | 絨毛膜細胞培養及染色體分析 | Villu cell culture & chromosome analysis | 6,000 |
| 000X0106 | 超音波掃瞄及絨毛膜細胞採取 | Sonagraphy for C.V.S. | 1,200 |
| 000X0108 | 絨毛細胞染色體分析 | CVS for chromosome analysis | 5,500 |
| 000X0109 | 婦產科家族遺傳檢查 | OBS/GYN familial genetic exam. | 5,000 |
| 000X0111 | 產前遺傳超音波檢查 | Prenatal genetic sonogram | 500 |
| 000X0112 | 基因諮詢 | Genetic counseling | 250 |
| 000X0120 | 螢光原位雜交分析（基因部羊水室） | Gene Analysis for Fish | 3,000 |
| 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 |
| 000X0130 | 羊水細胞大量培養 | Cell culture | 1,500 |
| 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 |
| 000X0141 | 全頻光譜核型分析 | Spectral Karyotyping | 12,000 |
| 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 | 甘迺迪氏症基因檢查 | 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 |
| 000X0151 | 粒線體電子傳遞鏈酵素活性分析 | Mitochondrial electron transfer chain activity assay | 10,000 |
| 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新生兒篩檢 | SCID Newborn Screening | 150 |
| 000X0154 | 遺傳疾病營養諮詢 （國健局補助） | Metabolic disease Nutritional consultant(BHP) | 250 |
| 000X0155 | 粒線體DNA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 |
| 000X0159 | 第一代非侵入性產前胎兒染色體檢測 | Non-invasive prenatal testing | 18,000 |
| 000X0160 | 第二代非侵入性產前胎兒染色體檢測 | Non-invasive prenatal screening 2 | 30,000 |
| 000X0161 | 胚胎著床前基因診斷（每個胚胎） | Preimplantation Genetic Diagnosis,PGD | 6,000 |
| 000X0162 | 甲型海洋性貧血基因檢測 | x-thalassemia | 3,500 |
| 000X0163 | 威爾森氏症基因檢測 | Wilson's disease | 12,000 |
| 000X0164 | 小胖威利症及天使症候群基因檢測 | Prader Willi Syndrome& Angelman Syndrome | 6,000 |
| 000X0165 | 雷特氏症候群基因檢測 | Rett Syndrome | 3,100 |
| 000X0166 | Miller Dieker症候群LIS1突變點位分析 | Miller Dieker Syndrome(LIS1mutation analysis) | 5,480 |
| 000X0167 | 色素失調症基因檢測 | Incontinentia Pigmenti/ IP,NEMO gene | 9,000 |
| 000X0168 | 馬凡氏症候群基因檢測 | Marfan's Syndrome | 9,000 |
| 000X0169 | 努南氏症基因檢測 | Noonan Syndrome | 3,060 |
| 000X0170 | 強直性肌肉失養症基因檢測 | Myotonic Dystrophy | 4,000 |
| 000X0171 | 軟骨發育不全症基因檢測 | Achondroplasia | 7,600 |
| 000X0172 | 迪喬治症候群基因檢測 | Di-George Syndrome | 3,260 |
| 000X0173 | Miller Dieker症候群LIS1基因缺失分析 | Miller Dieker Syndrome(LIS1deletion analysis) | 2,940 |
| 000X0174 | 威廉氏症基因檢測 | Williams Syndrome | 3,260 |
| 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 |
| 000X0181 | 新生兒篩檢-典型法布瑞氏症,高雪氏症,黏多醣症 | Fabry, Gaucher, MPSs disease screening | 800 |
| 000X0182 | TPP1酵素檢查 | Tripeptidyl peptidase 1 (TPP1) enzyme assay | 5,000 |
| 000X0183 | 高雪氏症篩檢（限1歲以上使用） | Screening for Gaucher disease (>1 years old ) | 800 |
| 000X0200 | 乙型海洋性貧血基因檢測 | B-thalassemia | 3,500 |
| 000X0201 | 家族遺傳檢查（B） | Family genetic exam(B) | 6,000 |
| 000X0202 | 手足血緣鑑定 | Siblingship test | 13,500 |
| 000X0203 | 分子基因檢查 | Molecular genetic diagnosis | 2,000 |
| 000X0206 | 基因分析 Level5 | Genetic Analysis Level 5 | 20,000 |
| 000X0207 | 核酸製備 | DNA extration | 500 |
| 000X0208 | 核酸定量分析（1） | DNA Q-PCR(1) | 500 |
| 000X0211 | 基因掃描分析 | Gene Scan | 60 |
| 000X0212 | 祖孫血緣鑑定 | Grandparentage test | 13,500 |
| 000X0213 | 特殊血液染色體檢查 | Special chromosome | 5,000 |
| 000X0214 | 龐貝氏症篩檢 | Screening for Pompe Disease | 200 |
| 000X0215 | 甲基丙二酸 | Methylmalonic Acid | 400 |
| 000X0216 | 兒童神經基因檢測（小） | Pediatric neurogenetic analysis(level Ι) | 2,000 |
| 000X0217 | 兒童神經基因檢（大） | Pediatric neurogenetic analysis(level Ⅱ ) | 5,500 |
| 000X0218 | MSI分子基因檢查 | Microsatellite instability DNA analysis | 5,000 |
| 000X0219 | 琥珀醯丙酮 | Succinylacetone | 500 |
| 000X0220 | 腫瘤DNA萃取（研究用） | Tumor DNA Extraction(ONLY RESEARCH USE) | 500 |
| 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 |
| 000X0226 | 染色體晶片分析 | Array CGH analysis | 18,000 |
| 000X0227 | 次世代定序疾病基因突變檢測—大範圍 | 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 |
| 000X0230 | 次世代定序遺傳性乳癌／卵巢癌基因變異檢測 | Next Generation Sequencing for Hereditary Breast/Ovarian Cancer Associated Gene Variation Test | 30,000 |
| 000X0231 | 次世代定序遺傳性大腸癌基因變異檢測 | Next Generation Sequencing for Hereditary Gastrointestinal Cancer Syndromes Associated Gene Variation Test | 30,000 |
| 000X0232 | 次世代定序心臟疾病特定基因突變檢測 | Next Generation Sequencing for Selected Heart Diseases Associated Genes 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 000X0247 | 次世代定序兒童心臟疾病相關基因變異檢測 | Next Generation Sequencing - Pediatric Cardiovascular disease (Channopathy, Cardiomyoapthy, Pulmonary hypertension) | 30,000 |
| 000X0248 | 次世代定序乳癌/卵巢癌血循腫瘤DNA檢驗 | Next Generation Sequencing of Circulating Cell - free DNA in Breast and Ovarian Cancer | 12,000 |
| 000X0249 | 次世代定序腸胃道癌症血循腫瘤DNA檢驗 | Next Generation Sequencing of Circulating Cell - free DNA in Gastrointestinal Cancer | 12,000 |
| 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 |
| 000X0251 | 次世代定序腎臟疾病相關基因變異檢測 | Next Generation Sequencing - Renal disease (Hypokalemia, RTA) | 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 |