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HEREDITARY DISEASE DETECTION遗传病检测

认知障碍

 

该检验包收录可导致认知障碍临床表现的各类疾病共计102个基因,80种疾病。主要包括阿兹海默症、额颞叶痴呆等疾病。


主要疾病如下:

 

1

{Alzheimer disease, susceptibility to}

{阿尔茨海默病,易感性}

2

{Alzheimer disease, susceptibility to}

{阿尔茨海默病,易感性}

3

{Alzheimer disease, susceptibility to}

{阿尔茨海默病,易感性}

4

{Alzheimer disease,late-onset,susceptibility to}

{阿尔茨海默病,晚发型,易感性}

5

Alzheimer disease 1, familial

阿尔茨海默病,1型,家族性

6

Alzheimer disease-2

阿尔茨海默病,2

7

Alzheimer disease, type 3

阿尔茨海默病,3

8

Alzheimer disease, type 3, with spastic paraparesis and apraxia

阿尔茨海默病,3型,伴痉挛性痉挛性和失用症

9

Alzheimer disease, type 3, with spastic paraparesis and unusual plaques

阿尔茨海默病,3型,伴痉挛性痉挛性和异常斑块

10

Alzheimer disease-4

阿尔茨海默病,4

11

{Alzheimer disease 9, susceptibility to}

{阿尔茨海默病,9型,易感性}

12

{Alzheimer disease 18, susceptibility to}

{阿尔茨海默病,18型,易感性}

13

{Parkinson disease, late-onset, susceptibility to}

{帕金森氏病,晚发型,易感性}

14

{Parkinson disease, susceptibility to}

{帕金森氏病,易感性}

15

Frontotemporal lobar degeneration with ubiquitin-positive inclusions

额颞叶变性伴泛素阳性夹杂物

16

Frontotemporal lobar degeneration, TARDBP-related

额颞叶变性TARDBP相关性

17

Dementia, frontotemporal, with or without parkinsonism

额颞痴呆伴或不伴帕金森综合症

18

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1

包涵体肌炎伴早发型Paget病和额颞痴呆,1

19

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

额颞痴呆和或肌萎缩侧索硬化,1

20

Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia

肌萎缩侧索硬化伴或不伴额颞痴呆,14

21

Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia

肌萎缩侧索硬化伴或不伴额颞痴呆,15

22

Dementia, frontotemporal

额颞痴呆

23

Dementia, familial, nonspecific

家族性非特异性痴呆

24

{Lewy body dementia, susceptibility to}

{路易体痴呆症,易感性}

25

Mental retardation, autosomal dominant 6

精神发育迟滞,常染色体显性遗传,6

26

{?Schizophrenia, susceptibility to}

{精神分裂症,易感性}

27

Aphasia, primary progressive

原发性进行性失语

28

{Obsessive-compulsive disorder, protection against}

{预防强迫症}

29

Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants

脑淀粉样血管病(荷兰、意大利、爱荷华州、佛兰德、北极地区变异型)

30

{Bulimia nervosa, susceptibility to}

{神经性贪食症,易}

31

Ceroid lipofuscinosis, neuronal, 10

神经元蜡样脂褐质沉积症,10

32

Ceroid lipofuscinosis, neuronal, 11

神经元蜡样脂褐质沉积症,11

33

{Porphyria variegata, susceptibility to}

{混合型卟啉病,易感性}

34

Charcot-Marie-Tooth disease, type 2Y

腓骨肌萎缩症,2Y

35

Charcot-Marie-Tooth disease, axonal, type 2T

?腓骨肌萎缩症,轴突型,2T

36

Amyotrophic lateral sclerosis 17

肌萎缩侧索硬化,17

37

Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia

肌萎缩侧索硬化伴或不伴额颞痴呆,6

38

Amyotrophic lateral sclerosis 10, with or without FTD

肌萎缩侧索硬化,10型,伴或不伴FTD

39

Tremor, hereditary essential, 4

遗传性特发性震颤,4

40

Ornithine transcarbamylase deficiency

鸟氨酸氨甲酰转移酶缺乏症

41

Pick disease

Pick

42

Pick disease

Pick

43

Nasu-Hakola disease

Nasu-Hakola

44

Wilson disease

Wilson

45

Tangier disease

Tangier病(丹吉尔病)

46

Gaucher disease, perinatal lethal

Gaucher病,围产期致死型

47

Gaucher disease, type II

Gaucher病,II

48

Gaucher disease, type III

Gaucher病,III

49

Gaucher disease, type IIIC

Gaucher病,IIIC

50

Central hypoventilation syndrome, congenital

先天性中枢性低通气综合征

51

Donnai-Barrow syndrome

Donnai-Barrow综合征

52

Myopathy, centronuclear, autosomal recessive

中央核性肌病,常染色体隐性遗传

53

Supranuclear palsy, progressive

进行性核上性麻痹

54

Supranuclear palsy, progressive atypical

进行性非典型核上性麻痹

55

{Migraine, susceptibility to}

{偏头痛,易感性}

56

Epileptic encephalopathy, early infantile, 27

早期幼儿癫痫性脑病,27

57

?Spinocerebellar ataxia 43

?脊髓小脑共济失调,43

58

Immunodeficiency due to purine nucleoside phosphorylase deficiency

由于嘌呤核苷磷酸化酶缺乏导致免疫缺陷

59

?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

?线粒体DNA缺失综合征,15型(肝脑型)

60

Myasthenic syndrome, congenital, 6, presynaptic

先天性突触前肌无力综合征,6

61

Osteochondritis dissecans, short stature, and early-onset osteoarthritis

剥脱性骨软骨炎、身材矮小和早发型骨关节炎

62

Metaphyseal anadysplasia 2

干骨端发育不良,2

63

Cone-rod dystrophy 9

视锥-视杆细胞营养不良,9

64

Deafness, autosomal recessive 74

耳聋,常染色体隐性遗传,74

65

{Macular degeneration, age-related, 8}

{年龄相关性黄斑变性,8}

66

Leber congenital amaurosis 14

莱伯先天性黑蒙,14

67

?Keratosis pilaris atrophicans

?萎缩性毛发角化病

68

Acne inversa, familial, 1

家族性反常性痤疮,1

69

Acne inversa, familial, 2

家族性反常性痤疮,2

70

Glomerulosclerosis, focal segmental, 3

局灶节段性肾小球硬化症,3

71

Renal cell carcinoma, clear cell, somatic

肾透明细胞癌,体细胞

72

{Malaria, severe, resistance to}

{对重度疟疾具有抵抗力}

73

Arrhythmogenic right ventricular dysplasia, familial, 13

家族性致心律失常性右室发育不良,13

74

{Myocardial infarction, susceptibility to}

{心肌梗死,易感性}

75

Aromatase deficiency

芳香酶缺乏

76

[Uric acid concentration, serum, QTL1]

[尿酸浓度、血清、QTL1 ]

77

[Interleukin 6, serum level of, QTL]

[白细胞介素6、血清、QTL ]

78

Atransferrinemia

无铁传递蛋白血

79

Leukemia, acute myeloid, somatic

急性髓系白血病,体细胞

80

{Diabetes mellitus, noninsulin-dependent}

非胰岛素依赖型糖尿病

81

Tooth agenesis, selective, 7

选择性牙发育不全,7

82

Nail disorder, nonsyndromic congenital, 3, (leukonychia)

非综合征性先天性指甲病,3(白甲病)

83

Opsismodysplasia

Opsismodysplasia

 

 

 

 

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  • 人类遗传病基因查询平台

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