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HEREDITARY DISEASE DETECTION遗传病检测

脑血管脑肿瘤

 

该检验包包括与各类脑血管病、脑肿瘤相关的共计78个基因,91种疾病。主要包括脑小血管病伴或不伴眼部异常、法布里病、脑底异常血管网病、成神经管细胞瘤等。


主要疾病如下:

1

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy

脑动脉病伴皮质下梗死和白质脑病

2

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

脑动脉病(常染色体显性遗传)伴皮层下梗死和脑白质病变 2

3

Brain small vessel disease with or without ocular anomalies

脑小血管病伴或不伴眼部异常

4

CARASIL syndrome 

CARASIL综合征(常染色体隐性遗传性脑动脉病伴皮层下梗死和白质脑病)

5

Telangiectasia, hereditary hemorrhagic, type 1

遗传性出血性毛细血管扩张症 1

6

Telangiectasia, hereditary hemorrhagic, type 2

遗传性出血性毛细血管扩张症 2

7

Telangiectasia, hereditary hemorrhagic, type 5

遗传性出血性毛细血管扩张症 5

8

Moyamoya disease 2

脑底异常血管网病 2

9

Moyamoya disease 5

脑底异常血管网病 5

10

Moyamoya disease 6

脑底异常血管网病 6

11

Porencephaly 1

脑穿通畸形 1

12

{Hemorrhage, intracerebral, susceptibility to}

{脑出血 易感性}

13

Cerebral cavernous malformations

家族性海绵状脑血管畸形

14

Cerebral amyloid angiopathy

脑淀粉样蛋白血管疾病

15

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

脑淀粉样血管病、荷兰、意大利、爱荷华、佛兰芒,Arctic变种

16

Vasculopathy, retinal, with cerebral leukodystrophy

视网膜血管病变伴脑白质病变

17

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps

遗传性血管病伴肾病、动脉瘤和肌肉痉挛

18

?Retinal arteries, tortuosity of

?视网膜动脉迂曲

19

Abetalipoproteinemia

神经棘红细胞增多症

20

Hypercholesterolemia, familial

家族性高胆固醇血症

21

Hypercholesterolemia, familial

家族性高胆固醇血症

22

Hypercholesterolemia, familial

家族性高胆固醇血症

23

Hypercholesterolemia, familial

家族性高胆固醇血症

24

Diamond-Blackfan anemia 1

镰状细胞性贫血 1

25

Diamond-blackfan anemia 3

镰状细胞性贫血 3

26

Diamond-Blackfan anemia 4

镰状细胞性贫血 4

27

Diamond-Blackfan anemia 5

镰状细胞性贫血 5

28

Diamond-Blackfan anemia 6

镰状细胞性贫血 6

29

Diamond-Blackfan anemia 7

镰状细胞性贫血 7

30

Diamond-Blackfan anemia 8

镰状细胞性贫血 8

31

Diamond-Blackfan anemia 9

镰状细胞性贫血 9

32

Diamond-Blackfan anemia 10

镰状细胞性贫血 10

33

Diamond-Blackfan anemia 11

镰状细胞性贫血 11

34

Diamond-Blackfan anemia 12

镰状细胞性贫血 12

35

Diamond-Blackfan anemia 13

镰状细胞性贫血 13

36

Tuberous sclerosis 1

结节硬化症 1

37

Tuberous sclerosis 2

结节硬化症 2

38

{Thromboembolism, susceptibility to}

{血栓栓塞 易感性}

39

Thrombophilia due to activated protein C resistance

由于蛋白C抵抗导致的易栓症

40

Thrombophilia due to antithrombin III deficiency

由于抗凝血酶Ⅲ缺乏导致的易栓症

41

Thrombophilia due to protein C deficiency, autosomal dominant

由于蛋白C缺乏导致的易栓症 常隐

42

Thrombophilia due to protein C deficiency, autosomal recessive

由于蛋白C缺乏导致的易栓症 常显

43

Thrombophilia due to protein S deficiency, autosomal recessive

由于蛋白S缺乏导致的易栓症 常隐

44

Thrombophilia due to protein S deficiency, autosomal dominant

由于蛋白S缺乏导致的易栓症 常显

45

Thrombophilia due to elevated HRG

由于HRG缺乏导致的易栓症

46

Thrombophilia, familial, due to decreased release of PLAT

由于PLAT释放减少导致的家族性血栓形成倾向

47

Thrombophilia due to thrombin defect

由于凝血酶缺陷导致的易栓症

48

Thrombophilia due to thrombomodulin defect

由于血栓调节蛋白缺陷导致的易栓症

49

Thrombophilia due to heparin cofactor II deficiency

由于肝素辅因子II缺陷导致的易栓症

50

Thrombophilia, X-linked, due to factor IX defect

由于辅因子IX缺陷导致的易栓症

51

Basal ganglia calcification, idiopathic, 1

特发性基底节钙化 1

52

Basal ganglia calcification, idiopathic, 4

特发性基底节钙化 4

53

Basal ganglia calcification, idiopathic, 5

特发性基底节钙化 5

54

Arterial calcification, generalized, of infancy, 1

动脉钙化 广义 婴儿 1

55

Arterial calcification, generalized, of infancy, 2

动脉钙化 广义 婴儿 2

56

Thrombocythemia

原发性血小板增多症

57

Thrombocythemia

原发性血小板增多症

58

Thrombocythemia

原发性血小板增多症

59

Thrombocytopenia, congenital amegakaryocytic

先天性低巨核细胞性血小板减少症

60

Thrombocythemia

原发性血小板增多症

61

Leukemia, acute myeloid, somatic

急性髓系白血病 体细胞

62

Myelofibrosis, somatic

骨髓纤维化 体细胞

63

Myelofibrosis with myeloid metaplasia, somatic

骨髓纤维化伴髓样化生 体细胞

64

Thrombocythemia

原发性血小板增多症

65

Erythrocytosis, familial, 2

家族性红细胞增多症2

66

Fabry disease

法布里病

67

Nasu-Hakola disease

Nasu-Hakola

68

Nasu-Hakola disease

Nasu-Hakola

69

Polyarteritis nodosa, childhood-onset

儿童期结节性多动脉炎

70

{Macular degeneration, age-related, neovascular type}

{年龄相关性黄斑变性 新生血管型}

71

Lysyl hydroxylase 3 deficiency

赖氨酸羟化酶缺乏3

72

Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1

先天性肌营养不良-抗肌萎缩蛋白病(伴精神发育迟滞) B 1

73

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1

肌营养不良 先天性伴脑和眼部异常 A 1

74

Sneddon syndrome

Sneddon综合征

75

Carney complex

Carney 综合征

76

{Hemolytic uremic syndrome, atypical, susceptibility to, 6}

{非典型溶血性尿毒综合征 易感性 6}

77

Multisystemic smooth muscle dysfunction syndrome

多系统平滑肌功能紊乱综合征

78

Homocystinuria due to MTHFR deficiency

高胱氨酸尿症 MTHFR缺乏型

79

Homocystinuria-megaloblastic anemia, cblE type

高胱氨酸尿症-巨红细胞性贫血 cblE

80

Homocystinuria-megaloblastic anemia, cblG complementation type

高胱氨酸尿症-巨红细胞性贫血 cblG

81

Homocystinuria, B6-responsive and nonresponsive types

高胱氨酸尿症-B6相关或不相关

82

Thrombosis, hyperhomocysteinemic

同型半胱氨酸血症性血栓形成

83

Hypoprothrombinemia

低凝血酶原血症

84

Pseudoxanthoma elasticum

弹性假黄瘤

85

Medulloblastoma 

成神经管细胞瘤

86

Medulloblastoma

成神经管细胞瘤

87

Neuroblastoma

成神经细胞瘤

88

Pituitary adenoma

垂体腺瘤

89

Multiple endocrine neoplasia, type IV

多发性内分泌腺瘤

90

Paragangliomas 1

副神经节瘤 1

91

Paragangliomas 2

副神经节瘤 2

92

Paragangliomas 3

副神经节瘤 3

93

Paragangliomas 4

副神经节瘤 4

94

Paragangliomas 5

副神经节瘤 5

95

Neurofibromatosis 1

神经纤维瘤 1

96

Neurofibromatosis 2

神经纤维瘤 2

97

Tumor predisposition syndrome

肿瘤易感综合征

98

Melanoma and neural system tumor syndrome

黑色素瘤和神经系统肿瘤综合征

99

{Melanoma, cutaneous malignant, 2}

{皮肤恶性黑色素瘤 2}

 

 

 

 

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  • 人类遗传病基因查询平台

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