基因醫學部檢驗醫令項目表

項次

醫令碼

中文名稱

英文名稱

價格

外加

聯絡人

單位

1

000X0102

羊膜細胞培養，染色體分析

CELL CULTURE&CHROMOSOME ANALYSIS

6,500

-

詹家萍

71909

細胞遺傳

檢驗室

2

000X0105

絨毛膜細胞培養及染色体分析

VILLUS CELL CULTURE & CHROMOSOME ANALYSIS

6,000

-

3

000X0108

絨毛細胞染色體分析

CVS for chromosome analysis

5,500

-

4

000X0109

婦產科家族遺傳檢查

OBS/GYN familial genetic exam.

5,000

-

5

000X0213

血液染色體檢查

General chromosome

5,000

-

6

000X0159

第一代非侵入性產前胎兒染色體檢測

Non-invasive prenatal testing

18,000

-

林孟慧

林齊芳

71916

分子遺傳檢驗室

7

000X0160

第二代非侵入性產前胎兒染色體檢測

Non-invasive prenatal screening 2

30,000

-

8

000X0161

胚胎著床前基因診斷(每個胚胎)

Preimplantation Genetic Diagnosis,PGD

6,000

-

9

000X0162

甲型海洋性貧血基因檢測

α-thalassemia

3,500

-

10

000X0163

威爾森氏症基因檢測

Wilson's disease

12,000

-

11

000X0164

小胖威利症及天使症候群基因檢測

Prader Willi Syndrome& Angelman Syndrome

6,000

-

12

000X0165

雷特氏症候群基因檢測

Rett Syndrome

3,100

-

13

000X0166

Miller Dieker症候群LIS1突變點位分析

Miller Dieker Syndrome(LIS1mutation analysis)

5,480

-

14

000X0167

色素失調症基因檢測

Incontinentia Pigmenti/ IP,NEMO gene

9,000

-

15

000X0168

馬凡氏症候群基因檢測

Marfan's Syndrome

9,000

-

16

000X0169

努南氏症基因檢測

Noonan Syndrome

3,060

-

17

000X0170

強直性肌肉失養症基因檢測

Myotonic Dystrophy

4,000

-

18

000X0171

軟骨發育不全症基因檢測

Achondroplasia

7,600

-

19

000X0172

迪喬治症候群基因檢測

Di-George Syndrome

3,260

-

20

000X0173

Miller Dieker症候群LIS1基因缺失分析

Miller Dieker Syndrome(LIS1deletion analysis)

2,940

-

21

000X0174

威廉氏症基因檢測

Williams Syndrome

3,260

-

22

000X0226

染色體晶片分析

Array CGH analysis

18,000

-

23

000X0016

血緣鑑定

Paternity Test

8,000

2,000

黎淑芳
徐碧梅

71914
71915

產前遺傳暨親子鑑定檢驗室

24

000X0201

家族遺傳檢查（Ｂ）

Family Genetic Exam (B)

6,000

-

25

000X0202

手足血緣鑑定

SIBLINGSHIP TEST

13,500

-

26

000X0203

分子基因檢查

MOLECULAR GENETIC DIAGNOSIS

2,000

-

27

000X0212

祖孫血緣鑑定

Grandparentage test

13,500

-

28

000X0218

MSI分子基因檢查

Microsatellite instability DNA analysis

5,000

-

29

12187C0X

骨髓移植前基因檢測

PreBMT-STR

4,500

-

30

12187CYX

骨髓移植後基因檢測

Post-BMT-STR

4,500

-

31

12187CZX

骨髓移植基因檢測

Donor-BMT-STR 

4,500

-

32

000C0422

脊髓性肌肉萎縮症(SMA)帶因檢測

Spinal Muscular Atrophy (SMA) carrier detection

2,500

-

楊千慧

71802

產前遺傳暨親子鑑定檢驗室

33

000X0189

進階版非侵入性產前染色體檢驗

Non-Invasive Prenatal Test: NIPT Plus

21,000

-

34

000X0190

雙胞胎進階版非侵入性產前染色體檢驗

Non-Invasive Prenatal Test: NIPT Plus (Twin)

24,000

35

000X0191

胚胎著床前染色體篩檢(PGS)(每個胚胎)

Pre-implantation Genetic Screening (PGS)

18,000

36

000X0192

750K單核甘酸基因晶片檢測

Cytoscan 750K SNP-base Array

21,000

37

000X0200

乙型海洋性貧血基因檢測

ß-thalassemia

3,500

-

38

000X0153

嚴重複合型免疫缺乏症新生兒篩檢

SCID Newborn Screening

150

-

胡閔慧

71930

新生兒篩檢室

39

000X0157

生物素症新生兒篩檢

Neonatal Screening of Biotinidase Disease

100

-

40

000X0175

腎上腺腦白質失養症(ALD)篩檢

Screening  for Adrenoleukodystrophy

240

-

41

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

-

42

000X0184

新生兒裘馨氏肌肉失養症篩檢

Newborn Duchenne Muscular Dystrophy screening

350

-

43

000X0185

半乳糖濃度

Galactose concentration

150

-

44

000X0214

龐貝氏症篩檢

Screening for Pompe Disease

200

-

45

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

-

吳慧璿

71966

新生兒篩檢室

46

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

-

47

000X0178

尿中葡萄糖四醣檢驗

Urine Glc4 test

2,000

-

48

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

-

49

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

-

50

000X0183

高雪氏症篩檢(限1歲以上使用)

Screening for Gaucher disease(>1 years old )

800

-

51

000X0186

黏多醣第一型篩檢

Screening for MPS I disease (>1 years old)

900

-

52

000X0187

黏多醣第二型篩檢

Screening for MPS II disease (>1 years old)

900

-

53

000X0188

尿液黏多醣分型檢驗

Urinary GAG disaccharides test

2,000

-

54

000X0215

甲基丙二酸

Methylmalonic Acid

400

-

55

000X0219

琥珀醯丙酮

Succinylacetone

500

-

56

000X0002

小兒代謝遺傳疾病檢查

Test for inborn errors of metabolism

2,000

-

吳慧璿

71966

生化遺傳檢驗室

57

000X0055

芳香族L-胺基酸脫羧酵素缺乏症基因分析

AADC Deficiency Genetic Assay

11,500

500

58

000X0123

基因分析 Level1

Genetic Analysis Level 1

1,500

-

59

000X0124

基因分析 Level2

Genetic Analysis Level 2

3,000

-

60

000X0125

基因分析 Level3

Genetic Analysis Level 3

8,000

-

61

000X0126

基因分析 Level4

Genetic Analysis Level 4

15,000

-

62

000X0136

脊髓小腦性共濟失調

Spinocerebellar Ataxia type Ⅰ,Ⅱ,Ⅲ

2,000

500

63

000X0137

齒狀紅核蒼白球萎縮症

Dentato-rubro-pallido-luysian atrophy

1000

500

64

000X0138

脊髓小腦性共濟失調第17型

Spinocerebellar Ataxia type ⅩⅦ

1,000

500

65

000X0139

脊髓小腦性共濟失調第6型

Spinocerebellar Ataxia type Ⅵ

1000

500

66

000X0140

亨丁頓舞蹈症

Huntington Disease

2,000

500

67

000X0147

甘迺迪氏症基因檢查

Kennedy's Disease Genetic Test

1,000

500

68

000X0155

粒線體DNA拷貝數目分析

MtDNA copy number quantification test

2,500

-

69

000X0156

粒線體DNA nt3243 A＞Ｇ定量分析

MtDNA  nt3243 Ａ＞Ｇ quantification test

2,500

-

70

000X0182

TPP1酵素檢查

Tripeptidyl peptidase 1 (TPP1) enzyme assay

5,000

-

71

000X0206

基因分析 Level5

Genetic Analysis Level 5

20,000

-

72

000X0207

核酸製備

DNA Extration

500

-

73

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

-

74

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

-

75

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

-

吳慧璿

71966

生化遺傳檢驗室

76

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

-

77

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

-

78

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

-

79

000X0254

全癌基因檢測 (不含融合基因)

Comprehensive cancer gene test(without fusion genes)

58,000

-

80

000X0256

目標基因次世代定序變異判讀-遺傳性疾病基礎分析

Targeted NGS variant interpretation – basic genetic disease analysis

3,000

-

81

000X0257

全外顯子次世代定序變異判讀-遺傳性疾病基礎分析

Whole exome NGS variant interpretation – basic genetic disease analysis 

5,000

-

82

000X0258

全基因體次世代定序追加判讀-體藥物基因體學、HLA基因型、及多基因危險性分析

Whole genome NGS additional interpretation – pharmacogenomics, HLA, polygenic risk analyses 

15,000

-

83

000X0259

次世代定序特發性身材矮小疾病相關基因變異檢測

Next Generation Sequencing- Idiopathic short stature

30,000

-

84

000X0261

次世代定序健康相關重要基因變異檢測

Next Generation Sequencing-health important gene panel (ACMG incidental findings gene G6PD、HLA typing)

30,000

-

85

000X0262

次世代定序全外顯子定序檢測-單基因遺傳疾病

Next Generation Sequencing – Whole exome sequencing

30,000

-

86

000X0263

次世代定序全基因體定序檢測-遺傳疾病

Next Generation Sequencing – Whole genome sequencing

90,000

-

87

000X0264

次世代定序快速一家三口全外顯子檢測-單基因遺傳疾病

Next Generation Sequencing – Rapid Trio whole exome sequencing

116,500

-

88

000X0265

次世代定序肺部疾病套組囊狀纖維化基因變異檢測

Next Generation Sequencing - pulmonary disease panel - cystic fibrosis

15,080

-

89

000X0266

次世代定序威爾森氏症基因變異檢測

Next Generation Sequencing - Wilson disease

7,060

-

90

000X0269

次世代定序全外顯子定序檢測-肝臟疾病

Next Generation Sequencing-Whole exome sequencing for liver diseases

30,000

-

91

000X0270

次世代定序全外顯子定序檢測-遺傳性癌症

Next Generation Sequencing-Whole exome sequencing for hereditary cancer

30,000

-

92

12150B0D

血漿胺基酸定量檢查

Plasma Amino Acid Analysis

2,600

-

93

12194B00

代謝產物串聯質譜儀檢查(陽性追蹤使用)

Tandem Mass Analysis of Metabolites

650

-

94

09089B0D

尿液有機酸檢查(每次需加CRE-09015C予校正)

Urine Organic Acid analysis

2,340

-

95

000D11​13

生物素酵素缺乏症全基因分析

Biotinidase Deficiency Genetic Assay

5,500

500

96

000X0224

單一已知基因變異位點檢測

Genetic Test of single known genetic variant

1,500

-

陳幼玫

范盛之

李昭萱

71910

基因分子

診斷實驗室

97

000X0227

次世代定序疾病基因突變檢測—大範圍

Next-Generation Sequencing Genetic Test - Large Range (P&P, TAAD,  HRD)

30,000

-

98

000X0229

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

-

99

000X0233

次世代定序疾病基因突變檢測-大範圍-神經退化性疾病

NGS genetic test - Large range - Neurodegenerative Diseases (NDD)

30,000

-

100

000X0234

次世代定序疾病基因突變檢測-大範圍-聽損

NGS genetic test - Large range - Deafness (DF)

30,000

-

101

000X0236

次世代定序疾病基因突變檢測-大範圍-多囊性腎病變

NGS genetic test - Large range - Polycystic Kidney Disease (PKD)

30,000

-

102

000X0237

次世代定序疾病基因突變檢測-大範圍-黃疸

NGS genetic test - Large range - Jaundice 

30,000

-

103

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

-

104

000X0244

次世代定序疾病基因突變檢測—中範圍

Next-Generation Sequencing Genetic Test - Middle Range (NF)

15,080

-

105

000X0245

次世代定序疾病基因突變檢測—小範圍

Next-Generation Sequencing Genetic Test - Small Range (Deafness, FH, MEN1, MEN2, PHP, THR, CAH) 

7,060

-

106

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

-

107

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

-

108

000X0253

次世代定序癌症藥物基因檢驗

Next-generation sequencing for gene test of cancer medication

38,500

-