010-82444060

科技健康,快乐未来

HEREDITARY DISEASE DETECTION遗传病检测

肌萎缩侧索硬化症

 

该检测包收录与肌萎缩侧索硬化(ALS)相关的共计79个基因,81种疾病。


主要疾病如下:

1

Amyotrophic lateral sclerosis 1

肌萎缩侧索硬化,1

2

Amyotrophic lateral sclerosis 2, juvenile

肌萎缩侧索硬化,青少年型,2

3

Frontotemporal dementia and/or amyotrophic lateral sclerosis 3

肌萎缩侧索硬化/额颞痴呆,3

4

Amyotrophic lateral sclerosis 4, juvenile

肌萎缩侧索硬化,青少年型,4

5

Amyotrophic lateral sclerosis 5, juvenile

肌萎缩侧索硬化,青少年型,5

6

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

7

Amyotrophic lateral sclerosis 8

肌萎缩侧索硬化,8

8

Amyotrophic lateral sclerosis 9

肌萎缩侧索硬化,9

9

Amyotrophic lateral sclerosis 10, with or without FTD

肌萎缩侧索硬化伴或不伴FTD10

10

Amyotrophic lateral sclerosis 11

肌萎缩侧索硬化,11

11

Amyotrophic lateral sclerosis 12

肌萎缩侧索硬化,12

12

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

13

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

14

?Amyotrophic lateral sclerosis 16, juvenile

?肌萎缩侧索硬化,16型,青少年型

15

Amyotrophic lateral sclerosis 17

肌萎缩侧索硬化,17

16

Amyotrophic lateral sclerosis 18

肌萎缩侧索硬化,18

17

Amyotrophic lateral sclerosis 19

肌萎缩侧索硬化,19

18

Amyotrophic lateral sclerosis 20

肌萎缩侧索硬化,20

19

{Amyotrophic lateral sclerosis, susceptibility to}

{肌萎缩侧索硬化,易感性}

20

{Amyotrophic lateral sclerosis, susceptibility to}

{肌萎缩侧索硬化,易感性}

21

?{Amyotrophic lateral sclerosis, susceptibility to}

{肌萎缩侧索硬化,易感性}

22

Primary lateral sclerosis, juvenile

侧索硬化症,青少年型原发性

23

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

腓骨肌萎缩症,2X型,轴突型

24

Charcot-Marie-Tooth disease, type 2Y

腓骨肌萎缩症,2Y

25

Charcot-Marie-Tooth disease, type 4J

腓骨肌萎缩症,4J

26

Spastic paralysis, infantile onset ascending

痉挛性截瘫,婴儿型上升性遗传性

27

Spastic paraplegia 4, autosomal dominant

痉挛性截瘫,常染色体显性遗传,4

28

Spastic paraplegia 6, autosomal dominant

痉挛性截瘫,常染色体显性遗传,6

29

Spastic paraplegia 11, autosomal recessive

痉挛性截瘫,常染色体隐性遗传,11

30

Spastic paraplegia 39, autosomal recessive

痉挛性截瘫,常染色体隐性遗传,39

31

?Spinal muscular atrophy, distal, autosomal recessive, 2

?脊髓性肌萎缩症,远端,常染色体隐性遗传,2

32

Spinal muscular atrophy, late-onset, Finkel type

脊髓性肌萎缩症,Finkel型,晚发型

33

Spinal muscular atrophy-1

脊髓性肌萎缩症,1

34

Spinal muscular atrophy-2

脊髓性肌萎缩症,2

35

Spinal muscular atrophy-3

脊髓性肌萎缩症,3

36

Spinal muscular atrophy-4

脊髓性肌萎缩症,4

37

Dementia, familial, nonspecific

家族性非特异性痴呆

38

{Schizophrenia}

{精神分裂症}

39

{Alzheimer disease, susceptibility to}

{阿尔茨海默病,易感性}

40

Alzheimer disease-2

阿尔茨海默病,2

41

Neuropathy, distal hereditary motor, type VIIB

远端遗传性运动神经病,VIIB

42

Auditory neuropathy, autosomal dominant, 1

听神经病,常染色体显性遗传,1

43

Mental retardation, autosomal dominant 33

精神发育迟滞,常染色体显性遗传,33

44

{Parkinson disease, susceptibility to}

{帕金森氏病,易感性}

45

Parkinson disease 7, autosomal recessive early-onset

早发型帕金森氏病,常染色体隐性遗传,7

46

Lymphoma, B-cell

B细胞淋巴瘤

47

Neuroepithelioma

神经上皮瘤

48

Ewing sarcoma

尤文肉瘤

49

Chondrosarcoma, extraskeletal myxoid

骨外黏液样软骨肉瘤

50

Renal cell carcinoma, clear cell, somatic

肾透明细胞癌,体细胞

51

Deafness, autosomal dominant 40

耳聋,常染色体显性遗传,40

52

Tremor, hereditary essential, 4

遗传性特发性震颤,4

53

Aphasia, primary progressive

原发性进行性失语

54

?Anhidrosis, isolated, with normal sweat glands

?单纯性无汗症伴正常汗腺

55

{Microvascular complications of diabetes 1}

{糖尿病微血管并发症,1}

56

{Microvascular complications of diabetes 5}

{糖尿病微血管并发症,5}

57

{Lead poisoning, susceptibility to}

{铅中毒,易感性}

58

Perry syndrome

Perry综合征

59

Yunis-Varon syndrome

Yunis-Varon综合征

60

?Laurence-Moon syndrome

?Laurence-Moon综合征

61

Boucher-Neuhauser syndrome

Boucher-Neuhauser综合征

62

Oliver-McFarlane syndrome

Oliver-McFarlane综合征

63

Brown-Vialetto-Van Laere syndrome 1

Brown-Vialetto-Van Laere综合征,1

64

Brown-Vialetto-Van Laere syndrome 2

Brown-Vialetto-Van Laere综合征,2

65

Lamb-Shaffer syndrome

Lamb-Shaffer综合征

66

Floating-Harbor syndrome

Floating-Harbor综合征

67

Porphyria, acute hepatic

急性肝性卟啉病

68

Pick disease

Pick

69

Fazio-Londe disease

Fazio-Londe

70

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

Charcot-Marie-Tooth病,轴型,2cc

71

?Polymicrogyria, bilateral temporooccipital

?双侧颞枕多小脑回畸形

72

Frontotemporal lobar degeneration with ubiquitin-positive inclusions

额颞叶变性,伴泛素阳性夹杂物

73

Frontotemporal lobar degeneration, TARDBP-related

额颞叶变性,TARDBP相关性

74

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

75

?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2

包涵体肌炎伴早发型Paget病伴或不伴额颞痴呆,2

76

?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3

?包涵体肌炎伴早发型Paget病不伴额颞痴呆,3

77

Dementia, frontotemporal, with or without parkinsonism

额颞痴呆伴或不伴帕金森综合症

78

Ceroid lipofuscinosis, neuronal, 11

神经元蜡样脂褐质沉积症,11

79

Supranuclear palsy, progressive

进行性核上性麻痹

80

Supranuclear palsy, progressive atypical

进行性非典型核上性麻痹

81

Spinocerebellar ataxia, autosomal recessive 1

脊髓小脑共济失调,常染色体隐性遗传,1

82

Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset

共济失调,肌张力障碍的神经退行性疾病,和凝视麻痹,儿童发病

 

 

 

 

  • 北京康旭医学检验所公众号
  • 人类遗传病基因查询平台

010-82444060-6009

地址:北京市海淀区杏石口路益园文化创意产业基地C区10号楼4层

关于康旭| 康旭医学| 康旭健康| 康旭科技| 康旭培训| 加入康旭

Copyright © 2017 Kangso.net All Right Reserved | Designed by QiLu北ICP备14012994号-1