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HEREDITARY DISEASE DETECTION遗传病检测

遗传代谢检测包

 

遗传代谢病检测包共收录与遗传代谢病相关270个基因,251种疾病。如:粘脂贮积症、黏多糖贮积症、戊二酸血症 、家族性高胆固醇血症等。


主要疾病如下:

1

Ceroid lipofuscinosis, neuronal, 1

神经元蜡样质脂褐质沉积症 1

2

Ceroid lipofuscinosis, neuronal, 2

神经元蜡样质脂褐质沉积症 2

3

Ceroid lipofuscinosis, neuronal, 3

神经元蜡样质脂褐质沉积症 3

4

Ceroid lipofuscinosis, neuronal, 4

神经元蜡样质脂褐质沉积症 4

5

Ceroid lipofuscinosis, neuronal, 5

神经元蜡样质脂褐质沉积症 5

6

Ceroid lipofuscinosis, neuronal, 6

神经元蜡样质脂褐质沉积症 6

7

Ceroid lipofuscinosis, neuronal, 7

神经元蜡样质脂褐质沉积症 7

8

Ceroid lipofuscinosis, neuronal, 8

神经元蜡样质脂褐质沉积症 8

9

Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant

神经元蜡样质脂褐质沉积症 8型北方癫痫变异

10

Ceroid lipofuscinosis, neuronal, 10

神经元蜡样质脂褐质沉积症 10

11

Ceroid lipofuscinosis, neuronal, Kufs type, adult onset

神经元蜡样质脂褐质沉积症 Kufs 成年人发病

12

Mucolipidosis II alpha/beta
Mucolipidosis III alpha/beta

粘脂贮积症 II  alpha/beta
粘脂贮积症 III alpha/beta

13

Mucolipidosis III gamma

粘脂贮积症 III gamma

14

Mucolipidosis IV

粘脂贮积症 IV

15

Mannosidosis, alpha-, types I and II

a-甘露糖苷增多症

16

Mucopolysaccharidosis Ih

黏多糖贮积症 Ih

17

Mucopolysaccharidosis Ih/s

黏多糖贮积症 Ih/s

18

Mucopolysaccharidosis Is

黏多糖贮积症 Is

19

Mucopolysaccharidosis II

黏多糖贮积症 II

20

Mucopolysaccharidisis IIIA

黏多糖贮积症 IIIA

21

Mucopolysaccharidosis IIIB

黏多糖贮积症 IIIB

22

Mucopolysaccharidosis IIIC

黏多糖贮积症 IIIC

23

Mucopolysaccharidosis IIID

黏多糖贮积症 IIID

24

Mucopolysaccharidosis IVA

黏多糖贮积症 IVA

25

Mucopolysaccharidosis IVB

黏多糖贮积症 IVB

26

Mucopolysaccharidosis VI

黏多糖贮积症 VI

27

Mucopolysaccharidosis VII

黏多糖贮积症 VII

28

Mucopolysaccharidosis IX

黏多糖贮积症 IX

29

GM1-gangliosidosis

GM1神经节苷脂贮积症

30

GM2-gangliosidosis, several forms

GM2神经节苷脂贮积症 Tay-Sachs

31

GM2-AB variant

GM2神经节苷脂贮积症 AB变异型

32

Neutral lipid storage disease with myopathy

中性脂质贮积症伴肌病

33

neutral lipid storage disease (Chanarin-Dorfman syndrome)

中性脂质贮积症
(Chanarin-Dorfman
综合征)

34

Chylomicron retention disease

乳糜微粒驻留病

35

Fucosidosis

岩藻糖苷贮积病

36

Mannosidosis, beta

β-甘露糖苷增多症

37

Sialidosis, type I

涎酸贮积症 I

38

Sialidosis, type II

涎酸贮积症 II

39

Cystinosis

胱氨酸贮积症

40

Pyruvate dehydrogenase E1-alpha deficiency

丙酮酸脱氢酶E1-α缺乏症

41

Pyruvate dehydrogenase E1-beta deficiency

丙酮酸脱氢酶E1-β缺乏症

42

Pyruvate dehydrogenase phosphatase deficiency

丙酮酸脱氢酶磷酸酶缺乏症

43

Pyruvate dehydrogenase E2 deficiency

丙酮酸脱氢酶E2缺乏症

44

Carnitine deficiency, systemic primary

系统性原发性肉毒碱缺乏

45

CPT deficiency, hepatic, type IA

CPT缺乏 IA

46

CPT deficiency, hepatic, type II

肝内肉碱棕榈酰转移酶缺乏症 II

47

Carnitine-acylcarnitine translocase deficiency

肉碱脂酰转移酶缺乏症

48

Acyl-CoA dehydrogenase, long chain

长链酰基-CoA脱氢酶缺乏症

49

Acyl-CoA dehydrogenase, medium chain

中链酰基-CoA脱氢酶缺乏症

50

Acyl-CoA dehydrogenase, short chain

短链酰基-CoA脱氢酶缺乏症

51

LCHAD deficiency

LCHAD 缺乏症

52

VLCAD deficiency

VLCAD 缺乏症

53

Trifunctional protein deficiency

线粒体三功能蛋白缺陷

54

Trifunctional protein deficiency

线粒体三功能蛋白缺陷

55

2-methylbutyrylglycinuria

2-甲基丁酰辅酶A脱氢酶缺乏症

56

Isobutyryl-CoA dehydrogenase deficiency

异丁酰辅酶A脱氢酶缺乏症

57

Malonyl-CoA decarboxylase deficiency

丙二酰辅酶A脱羧酶(MCD)缺乏症

58

Lipase deficiency, combined

联合脂肪酶缺乏症

59

Hepatic lipase deficiency

肝酯酶缺乏症

60

Methylmalonyl-CoA epimerase deficiency

甲基丙二酰辅酶A异构酶缺乏

61

Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency

由于蛋氨酸腺苷转移酶I/III缺乏 导致的持续性高甲硫胺酸血症 常染色体显性遗传

62

Dihydrolipoamide dehydrogenase deficiency

二氢硫辛酰胺脱氢酶缺乏症

63

Glycine N-methyltransferase deficiency

甘氨酸N-甲基转移酶缺乏症

64

3-Methylcrotonyl-CoA carboxylase 1 deficiency

3-甲基巴豆酰辅酶A羧化酶1缺乏症

65

3-Methylcrotonyl-CoA carboxylase 2 deficiency

3-甲基巴豆酰辅酶A羧化酶2缺乏症

66

3-hydroxyisobutryl-CoA hydrolase deficiency

3-hydroxyisobutryl-CoA hydrolase 缺乏症

67

HMG-CoA lyase deficiency

HMG-CoA裂解酶缺乏症

68

Biotinidase deficiency

生物素酶缺乏

69

Holocarboxylase synthetase deficiency

全羧化酶合成酶缺乏

70

Methylenetetrahydrofolate reductase deficiency

亚甲基四氢叶酸还原酶缺乏症

71

Megaloblastic anemia due to dihydrofolate reductase deficiency

由于二氢叶酸还原酶缺乏导致的巨幼红细胞性贫血

72

Glutamate formiminotransferase deficiency 

谷氨酸亚胺基甲基转移酶缺乏

73

Glutathione synthetase deficiency

谷胱甘肽合成酶缺陷症

74

5-oxoprolinase deficiency

5-氧合脯氨酸酶缺乏症

75

Neurodegeneration due to cerebral folate transport deficiency

大脑叶酸转运缺乏 导致的神经退行性变

76

Folate malabsorption, hereditary

遗传性叶酸吸收障碍

77

Succinic semialdehyde dehydrogenase deficiency

琥珀酸半醛脱氢酶缺陷症

78

Carbamoylphosphate synthetase I deficiency

氨甲酰磷酸合成酶I缺乏症

79

Ornithine transcarbamylase deficiency

鸟氨酸氨甲酰转移酶缺乏症

80

N-acetylglutamate synthase deficiency

乙酰谷氨酸合成酶缺乏症

81

Acatalasemia

血过氧化氢酶缺乏症

82

Adenine phosphoribosyltransferase deficiency

腺嘌呤磷酸核糖基转移酶缺乏症

83

Dihydropyrimidine dehydrogenase deficiency

二氢嘧啶酶缺陷症

84

Transcobalamin II deficiency

转运钴胺II缺乏

85

Intrinsic factor deficiency 

内因子缺乏

86

Glutathione synthetase deficiency

谷胱甘肽合成酶缺陷症

87

Pyruvate dehydrogenase E2 deficiency

丙酮酸脱氢酶E2缺失

88

Hemolytic anemia due to G6PD deficiency

G6PD缺乏症引起的溶血性贫血

89

Methylmalonate semialdehyde dehydrogenase deficiency

甲基丙二酸半醛脱氢酶缺乏症

90

Pyruvate carboxylase deficiency

丙酮酸盐羧化酶缺乏

91

Pyruvate dehydrogenase E1-beta deficiency

丙酮酸脱氢酶E1β缺乏症

92

Pyruvate dehydrogenase phosphatase deficiency

丙酮酸脱氢酶磷酸酶缺乏

93

Hypercholesterolemia, familial

家族性高胆固醇血症

94

Hypercholesterolemia, familial

家族性高胆固醇血症

95

Hypercholesterolemia, due to ligand-defective apo B

高胆固醇血症 apoB配体缺陷性

96

Hypercholesterolemia, familial, autosomal recessive

家族性高胆固醇血症 常染色体隐性

97

Combined hyperlipidemia, familial

家族性高脂血症

98

Hyperlipoproteinemia, type Ib

高脂蛋白血症 Ib

99

Hyperlipoproteinemia III

高脂蛋白血症 III

100

Hyperchylomicronemia

家族性高乳糜微粒血症

101

Abetalipoproteinemia

无β脂蛋白血

102

Hypobetalipoproteinemia

β低脂蛋白血症

103

Hypobetalipoproteinemia, familial, 2

家族性低β脂蛋白血症 2

104

Lipodystrophy, familial partial, 2

家族性部分性脂肪营养不良 2

105

Lipodystrophy, familial partial, 3

家族性部分性脂肪营养不良 3

106

Lipodystrophy, familial partial, 4

家族性部分性脂肪营养不良 4

107

Lipodystrophy, congenital generalized, type 1

先天性泛发性脂肪营养不良 1

108

Lipodystrophy, congenital generalized, type 2

先天性泛发性脂肪营养不良 2

109

Lipodystrophy, congenital generalized, type 3

先天性泛发性脂肪营养不良 3

110

Lipodystrophy, congenital generalized, type 4

先天性泛发性脂肪营养不良 4

111

{Lipodystrophy, partial, acquired, susceptibility to}

{后天获得性部分性脂肪营养不良 易感性}

112

Methylmalonic aciduria, MUT type

甲基丙二酸尿症 MUT

113

Methylmalonic aciduria, vitamin B12-responsive

甲基丙二酸尿症 维他命B12相关

114

Methylmalonic aciduria, vitamin B12-responsive

甲基丙二酸尿症 维他命B12相关

115

Methylmalonic aciduria and homocystinuria, cblC type

甲基丙二酸尿症和高胱胺酸尿症 cblC

116

Methylmalonic aciduria and homocystinuria, cblD type

甲基丙二酸尿症和高胱胺酸尿症 cblD

117

Methylmalonic aciduria and homocystinuria, cblF type

甲基丙二酸尿症和高胱胺酸尿症 cblF

118

Homocystinuria due to MTHFR deficiency

高胱氨酸尿症 MTHFR缺乏型

119

Homocystinuria-megaloblastic anemia, cblE type

高胱氨酸尿症-巨红细胞性贫血 cblE

120

Homocystinuria-megaloblastic anemia, cblG complementation type

高胱氨酸尿症-巨红细胞性贫血 cblG

121

Homocystinuria, B6-responsive and nonresponsive types

高胱胺酸尿症 B6反应型和反应迟钝型

122

Phenylketonuria

苯丙酮尿症

123

Cystathioninuria

胱硫醚尿症

124

Maple syrup urine disease, type Ia

枫糖尿病 Ia

125

Maple syrup urine disease, type Ib

枫糖尿病 Ib

126

Maple syrup urine disease, type II

枫糖尿病 II

127

Alkaptonuria 

黑尿酸症

128

3-methylglutaconic aciduria, type I 

3-甲基戊二酸尿症 I

129

3-methylglutaconic aciduria, type III

3-甲基戊二酸尿症 III

130

3-methylglutaconic aciduria, type V

3-甲基戊二酸尿症 V

131

Alpha-methylacetoacetic aciduria

α-甲基乙酰乙酸尿症

132

D-2-hydroxyglutaric aciduria

D-2羟基戊二酸尿症

133

D-2-hydroxyglutaric aciduria 2

D-2羟基戊二酸尿症 2

134

L-2-hydroxyglutaric aciduria

L-2羟基戊二酸尿症

135

Cystinuria

胱氨酸尿症

136

Cystinuria

胱氨酸尿症

137

Hyperglycinuria

家族性肾原型亚甘氨酸尿症

138

Hyperglycinuria

家族性肾原型亚甘氨酸尿症

139

Hyperglycinuria

家族性肾原型亚甘氨酸尿症

140

Diarrhea 8, secretory sodium, congenital

先天性钠分泌腹泻 8

141

Argininosuccinic aciduria

精氨酸琥珀酸尿症

142

Pentosuria

戊糖尿症

143

D-glyceric aciduria

D-甘油酸尿症

144

Hyperoxaluria, primary, type I

高草酸尿症 I

145

Hyperoxaluria, primary, type II

高草酸尿症 Ⅱ型

146

Xanthinuria, type I

黄嘌呤尿症  I

147

Orotic aciduria

乳清酸尿症

148

Aspartylglucosaminuria

天冬氨酰氨基葡糖尿症

149

hydroxykynureninuria

羟基犬尿氨酸尿症

150

Combined malonic and methylmalonic aciduria

甲基丙二酸尿症

151

Methylmalonic aciduria due to transcobalamin receptor defect

钴胺传递蛋白受体缺陷甲基丙二酸尿症

152

5-fluorouracil toxicity

5-氟尿嘧啶毒性

153

Diabetes insipidus, nephrogenic

肾性尿崩症

154

Diabetes insipidus, nephrogenic

肾性尿崩症

155

Diabetes insipidus, neurohypophyseal

神经垂体尿崩症

156

Hyperphenylalaninemia, BH4-deficient, A 

高苯丙氨酸血症 BH4缺乏 A

157

Hyperphenylalaninemia, BH4-deficient, B

高苯丙氨酸血症 BH4缺乏 B

158

Hyperphenylalaninemia, BH4-deficient, C

高苯丙氨酸血症 BH4缺乏 C

159

Hyperphenylalaninemia, BH4-deficient, D

高苯丙氨酸血症 BH4缺乏 D

160

Glutaric acidemia IIA

戊二酸血症 IIA

161

Glutaric acidemia IIB

戊二酸血症 IIB

162

Glutaric acidemia IIC

戊二酸血症 IIC

163

Glutaric aciduria

戊二酸尿症

164

Histidinemia

组氨酸血症

165

Isovaleric acidemia

异戊酸血症

166

Tyrosinemia, type I

酪氨酸血症 I

167

Tyrosinemia, type II

酪氨酸血症 II

168

Tyrosinemia, type III

酪氨酸血症 III

169

Hyperlysinemia

高赖氨酸血症

170

Hyperprolinemia, type I

高脯氨酸血症 I

171

Hyperprolinemia, type II

高脯氨酸血症 II

172

Propionic acidemia

丙酸血症

173

Propionic acidemia

丙酸血症

174

Hypermethioninemia due to adenosine kinase deficiency

高甲硫胺酸血症 腺苷激酶缺乏导致

175

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

高甲硫胺酸血症 S-腺苷同型半胱氨酸水解酶缺乏

176

Mevalonic aciduria

甲羟戊酸血症

177

Sarcosinemia

高肌氨酸血症

178

Citrullinemia

瓜氨酸血症

179

Citrullinemia

瓜氨酸血症

180

Argininemia

精氨酸血症

181

?Hypervalinemia or hyperleucine-isoleucinemia

高亮氨酸-异亮氨酸血症

182

?Hypervalinemia or hyperleucine-isoleucinemia

高亮氨酸-异亮氨酸血症

183

Lacticacidemia due to PDX1 deficiency

PDX1缺乏性乳酸血症

184

Glycogen storage disease

糖原累积症

185

Glycogen storage disease, type 0

糖原累积症 0

186

Glycogen storage disease, type 0

糖原累积症 0

187

Glycogen storage disease Ia

糖原累积症 Ia

188

Glycogen storage disease Ib

糖原累积症 Ib

189

Glycogen storage disease Ic

糖原累积症 Ic

190

Glycogen storage disease II

糖原累积症 II

191

Glycogen storage disease IIIa

糖原累积症 IIIa

192

Glycogen storage disease IIIb

糖原累积症 IIIb

193

Glycogen storage disease IV

糖原累积症 IV

194

Glycogen storage disease VI

糖原累积症 VI

195

Glycogen storage disease VII

糖原累积症 VII

196

Glycogen storage disease IXa1

糖原累积症 IXa1

197

Glycogen storage disease IXa2

糖原累积症 IXa2

198

Glycogen storage disease Ixb

糖原累积症 IXb

199

Glycogen storage disease Ixc

糖原累积症 IXc

200

Glycogen storage disease X

糖原累积症 X

201

Galactosemia

半乳糖血症

202

Galactose epimerase deficiency

半乳糖表异构酶缺乏症

203

Galactosemia II/Galactokinase deficiency with cataracts

半乳糖血症II/半乳糖激酶缺乏症伴白内障

204

Maple syrup urine disease, type Ia

枫糖尿症 Ia

205

Maple syrup urine disease, type Ib

枫糖尿症 Ib

206

Maple syrup urine disease, type II

枫糖尿症 II

207

Maple syrup urine disease, type III/
Dihydrolipoamide dehydrogenase deficiency

枫糖尿症 III/二氢硫辛酰胺脱氢酶缺乏症

208

Lactase deficiency, congenital

先天性乳糖酶缺乏症

209

Lactase deficiency,adult
Lactase persistence/nonpersistence

成人性乳糖酶缺乏症/
乳糖耐受不耐症

210

Fructose intolerance

遗传性果糖不耐症/果糖血症

211

Fructose-1,6-bidphosphatase deficiency

果糖1,6 -二磷酸激酶缺陷症

212

Sucrase-isomaltase deficiency, congenital

先天性蔗糖酶-异麦芽糖酶缺乏

213

Peroxisomal acyl-CoA oxidase deficiency

过氧化物酶酰基辅酶A氧化酶缺乏症

214

D-bifunctional protein deficiency

D-双功能蛋白缺乏症

215

Alpha-methylacyl-CoA racemase deficiency

α-甲酰辅酶A消旋酶缺乏症

216

Adenosine deaminase deficiency, partial

腺苷脱氨酶缺陷症

217

Myoadenylate deaminase deficiency

肌腺苷酸脱氨酶缺乏症

218

AMP deaminase deficiency, erythrocytic

腺腺苷脱氨酶缺乏症

219

Leukoencephalopathy with vanishing white matter

白质消融性脑白质病

220

Leukoencephalopathy with vanishing white matter

白质消融性脑白质病

221

Leukoencephalopathy with vanishing white matter

白质消融性脑白质病

222

Leukoencephalopathy with vanishing white matter

白质消融性脑白质病

223

Leukoencephalopathy with vanishing white matter

白质消融性脑白质病

224

Adrenoleukodystrophy

新生儿肾上腺脑白质营养不良

225

Metachormaticle leukodystorphy (MLD)

异染性脑白质营养不良

226

Metachormaticle leukodystorphy (MLD)

异染性脑白质营养不良

227

Krabbe disease

球形细胞脑白质营养不良

228

Leukoencephalopathy with dystonia and motor neuropathy

白质脑病伴肌张力障碍和运动神经病变

229

Refsum Disease

Refsum

230

Refsum Disease

Refsum 

231

Zellweger syndrome

脑肝肾综合征 

232

Zellweger syndrome

脑肝肾综合征 

233

Zellweger syndrome

脑肝肾综合征 

234

Zellweger syndrome

脑肝肾综合征 

235

Zellweger syndrome

脑肝肾综合征 

236

Zellweger syndrome

脑肝肾综合征 

237

Zellweger syndrome

脑肝肾综合征 

238

Zellweger syndrome

脑肝肾综合征 

239

Zellweger syndrome

脑肝肾综合征 

240

Zellweger syndrome

脑肝肾综合征 

241

Zellweger syndrome

脑肝肾综合征 

242

Zellweger syndrome

脑肝肾综合征 

243

Peroxisome biogenesis disorder 1B (NALD/IRD) /Heimler syndrome 1

过氧化物酶体生物合成障碍1B/
Heimler
综合征1

244

Peroxisome biogenesis disorder

过氧化物酶体生物合成障碍 

245

Peroxisome biogenesis disorder

过氧化物酶体生物合成障碍 

246

Peroxisome biogenesis disorder

过氧化物酶体生物合成障碍 

247

Peroxisome biogenesis disorder

过氧化物酶体生物合成障碍 

248

Peroxisome biogenesis disorder

过氧化物酶体生物合成障碍 

249

Peroxisome biogenesis disorder

过氧化物酶体生物合成障碍 

250

Peroxisome biogenesis disorder

过氧化物酶体生物合成障碍 

251

Peroxisome biogenesis disorder

过氧化物酶体生物合成障碍 

252

Peroxisome biogenesis disorder

过氧化物酶体生物合成障碍 

253

Rhizomelic chondrodysplasia punctata, type 1

肢根斑点状软骨发育异常 1

254

Chondrodysplasia punctata, rhizomelic, type 2

肢根斑点状软骨发育异常 2

255

chondrodysplasia punctata, rhizomelic, type 3

肢根斑点状软骨发育异常 3

256

Rhizomelic chondrodysplasia punctata, type 5

肢根斑点状软骨发育异常 5

257

Cockayne syndrome

cockayne综合症 

258

Cockayne syndrome

cockayne综合症 

259

Cockayne syndrome

cockayne综合症 

260

Cockayne syndrome

cockayne综合症 

261

Cockayne syndrome

cockayne综合症 

262

Cockayne syndrome

cockayne综合症 

263

Trichothiodystrophy disease

毛发硫营养不良症

264

Trichothiodystrophy disease

毛发硫营养不良症

265

Trichothiodystrophy disease

毛发硫营养不良症

266

Xeroderma pigmentosum, group A

着色性干皮病 A

267

Xeroderma pigmentosum, group B

着色性干皮病 B

268

Xeroderma pigmentosum, group C

着色性干皮病 C

269

Xeroderma pigmentosum, group D

着色性干皮病 D

270

Xeroderma pigmentosum, group E

着色性干皮病 E

271

Xeroderma pigmentosum, group F

着色性干皮病 F

272

Xeroderma pigmentosum, group G

着色性干皮病 G

273

Niemann-Pick disease, type A

尼曼-匹克病 A

274

Niemann-Pick disease, type B

尼曼-匹克病 B

275

Niemann-Pick disease, type C1

尼曼-匹克病 C1

276

Niemann-Pick disease, type C2

尼曼-匹克病 C2

277

Niemann-Pick disease, type D

尼曼-匹克病 D

278

Fabry disease

法布里病

279

Farber lipogranulomatosis

Farber脂肪肉芽肿病

280

Gaucher disease 

戈谢病

281

Sandhoff disease, infantile, juvenile, and adult forms

Sandhoff 婴儿型 青少年型和成人型

282

Danon disease

Danon 

283

Wilson disease

肝豆状核变性

284

Menkes disease

Menkes

285

[Uric acid concentration, serum, QTL4]

[尿酸浓度 血清 QTL4 ]

286

{Gout susceptibility 4}

{痛风 易感性 4}

287

Dubin-Johnson syndrome

慢性特发性黄疸

288

Mulibrey nanism

肌酐脑眼侏儒

289

Glycine encephalopathy

甘氨酸脑病

290

Glycine encephalopathy

甘氨酸脑病

291

Glycine encephalopathy

甘氨酸脑病

292

{Spina bifida, folate-sensitive, susceptibility to} 

{叶酸敏感型体外瘫痪症 易感性}

293

McArdle disease

McArdle

294

Crigler-Najjar syndrome, type I

Crigler-Najjar综合征 I

295

Crigler-Najjar syndrome, type II

Crigler-Najjar综合征 II

296

Arts syndrome

Arts 综合征

297

Lesch-Nyhan syndrome

Lesch-Nyhan综合征(自毁容貌症)

298

Wolman disease

Wolman 

299

Lowe syndrome

Lowe综合征

300

Fanconi-Bickel syndrome

Fanconi-Bickel 综合征

301

williams syndrome 

Willams综合征

302

Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)

线粒体DNA耗竭综合征 5

303

Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)

线粒体DNA耗竭综合征 9

 

 

 

 

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