產品:
Meddx_301GeDNA
Meddx 301遺傳病基因測試 (單人)
建議給
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適用於18歲或以上男士或女士
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婚前檢查、計劃生育、有家族性遺傳病歷史
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準備進行人工輔助生殖
重點檢查項目:
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女性會進行301種測試,男性會進行279種測試
- 需12毫升血液
- 測試301種遺傳病基因
- 美國化驗
- 報告需時約3至4星期
- 測試由美國基因INVITAE上市公司供應
- 女性會進行301種測試,男性會進行279種測試
世界上有20%的主要健康問題與遺傳有關!
大部分經遺傳而發病的病患,也是嚴重的疾病!
子女若能遺傳到父母的優良基因,固然值得欣喜,但如果父母帶有遺傳隱性疾病基因而不知,有可能會遺傳給下一代。與唐氏綜合症的機率相比,遺傳隱性疾病的發病更高,香港最常見的遺傳隱性疾病是地中海貧血症、耳聾、脆性X綜合症、脊髓性肌肉萎縮症。基因檢測技術普及,只需抽血,便可檢測301種遺傳隱性疾病基因,令下一代的健康有更多保障。
如果呈陽性測試,將提供香港婦產專科醫生諮詢服務!
香港最常見的遺傳隱性疾病
蠶豆症(G6PD )
相對普遍的香港遺傳病,新生兒每1000 男嬰就有50 人患蠶豆症,而每1,000 女嬰便有4人患有此遺傳病。如能一早驗出胎兒遺傳蠶豆症,可提早計劃未來。
甲型及乙型地中海貧血
香港約有12%父母攜帶地貧基因,情況嚴重者胎兒會無法存活,而這類母親到懷孕後期,高血壓及大量出血風險亦會提升。如能一早驗出胎兒遺傳地貧,可提早計劃未來。而乙型地貧患者出生後亦需終生輸血,有些父母之前或會選擇停止懷孕
脆性X綜合症(Fragile X Syndrome)
智力發展遲緩和自閉症
耳聾( GJB2)
新生嬰兒出生缺陷最常見的原因之一,研究統計約每五百個新生嬰兒就有一個患有聽力障礙
脊髓性肌肉萎縮症
運動神經元退化,引致肌肉萎縮、無力,最終引致死亡
囊性纖維變性
影響肺部及胰臟,患者需接受長期治療或肺移植
龐貝氏症
患者體內無法分解肝醣,故會引致肌肉無力,心臟發大等,初生嬰兒患此病,一般活不過1至2歲
常見疾病包括:
瓜氨酸血症第一型 | Citrullinemia type 1 |
半乳糖血症(腸淋巴組織相關) | Galactosemia(GALT-related) |
3-β-羥基類固醇脫氫酶II型缺乏症(先天性腎上腺增生症) | 3-beta-hydroxysteroid dehydrogenase typeⅡdeficiency(congenital adrenal hyperplasia) |
白胺酸代謝異常症 | 3-hydroxy-3-methylglutarayl-CoA(HMG-CoA)lyase deficiency |
苯丙氨酸羥化酶缺乏症(包括苯丙酮尿症(PKU)) | Phenylalanine hydroxylase deficiency (including phenylketonuria (PKU)) |
I型酪氨酸血症 | Tyrosinemia type I |
β-硫解酶缺乏症 | Beta-ketothiolase deficiency |
肉鹼棕櫚酰轉移酶II缺乏症 | Carnitine palmitoyltransferase II deficiency |
戊二酸尿症1型 | Glutaric acidemia type I |
同型半胱氨酸尿症(與CBS相關) | Homocystinuria (CBS-related) |
異戊酸血症 | Isovaleric acidemia |
楓糖漿尿病(MSUD)2型 | Maple syrup urine disease (MSUD) type 2 |
甲基丙二酸血症(與MMAA相關) | Methylmalonic acidemia (MMAA-related) |
甲基丙二酸血症(與MMAB相關) | Methylmalonic acidemia (MMAB-related) |
甲基丙二酸血症(與MUT相關) | Methylmalonic acidemia (MUT-related) |
丙酸血症(與PCCA相關) | Propionic acidemia (PCCA-related) |
丙酸血症(與PCCB相關) | Propionic acidemia (PCCB-related) |
生物素酶缺乏症 | Biotinidase deficiency |
初生嬰兒代謝病篩查範圍包括:
脆性X綜合症 | Fragile X syndrome |
脊髓性肌肉萎縮症 | Spinal muscular atrophy |
⍺型地中海型貧血 | Alpha-thalassemia |
布盧姆綜合徵/布盧姆—托雷—Machacek綜合徵 | Bloom syndrome |
杜興氏肌肉萎縮症(DMD) | DMD-related dystrophinopathy(including Duchenne/Becker muscular dystrophy and dilated cardiomyopathy) |
高雪氏症 | Gaucher disease |
龐貝氏症 | Glycogen storage disease typeⅡ(Pompe disease) |
黏脂質症第四型 | Mucolipidosis typeⅣ |
色盲症(CNGB3相關) | Achromatopsia (CNGB3-related) |
多囊性腎病變(PKHD1相關) | Polycystic kidney disease (PKHD1-related) |
先天性重症肌無力綜合症(與CHRNE相關) | Congenital myasthenic syndrome (CHRNE-related) |
先天性重症肌無力綜合症(與RAPSN相關) | Congenital myasthenic syndrome (RAPSN-related) |
IX因子缺乏症(血友病B) | Factor IX deficiency (hemophilia B)* |
6-磷酸葡萄糖脫氫酶(G6PD)缺乏症 | Glucose-6-phosphate dehydrogenase(G6PD)deficiency |
其他包括:
囊腫性纖維化/囊腫性纖維變性/囊腫纖維症/纖維性囊腫 | Cystic fibrosis and other CFTR-related disorders |
家族性軸突海綿退化 | Canavan disease |
先天性糖基化障礙(磷酸甘露糖變位酶2引起) | Congenital disorder of glycosylation(PMM2-related) |
二氫硫辛酰胺脫氫酶缺乏症/線粒體二氫硫辛酸脫氫酶缺乏 | Dihydrolipoamide dehydrogenase deficiency(DLD) |
家族性自主神經失調症/賴利-戴綜合徵 | Familial dysautonomia |
家族性高胰島素血症(ABCC8相關) | Familial hyperinsulinism(ABCC8-related) |
範可尼貧血C型 | Fanconi anemia type C |
與FKTN相關(包括沃克-瓦爾堡綜合症) | FKTN-related disorder(including Walker-Warbury syndrome) |
GJB2相關的DFNB1非綜合徵性聽力損失和耳聾 | GJB2-related DFNB1 nonsyndromic hearing loss and deafness |
肝醣儲積症1A型 | Glycogen storage disease type la |
Hbβ鏈相關的血紅蛋白病(包括貝他海洋性貧血和鐮刀型紅血球疾病) | HBB-related hemoglobinopathies(including beta-thalassemia and sickle cell disease) |
Krabbe氏症(球細胞腦白質失養症) | Krabbe disease |
楓糖尿症1A型 | Maple syrup urine disease(MSUD)type 1A |
楓糖尿症1B型 | Maple syrup urine disease(MSUD)type 1B |
中鏈脂肪酸去氫酵素缺乏症 | Medium chain acyl-CoA dehydrogenase(MCAD)deficiency |
3-甲基戊二酸尿酸Ⅲ型(Costeff視神經萎縮) | 3-methylglutaconic aciduria typeⅢ(Costeff optic atrophy) |
11-β-羥化酶缺陷型先天性腎上腺增生 | 11-beta-hydroxylase-deficient congenital adrenal hyperplasia |
17-α-羥化酶缺陷型先天性腎上腺增生 | 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia |
脂蛋白血症 | Abetalipoproteinemia |
酰基輔酶A脫氫酶9(ACAD9)缺陷 | ACAD9 deficiency |
腸炎性皮炎 | Acrodermatitis enteropathica |
腺苷脫氨酶缺乏症( ADA缺乏症) | Adenosine deaminase deficiency |
I型粘多醣貯積病(包括Hurler,HurlerScheie和Scheie綜合徵) | Mucopolysaccharidosis type I (including Hurler, HurlerScheie, and Scheie syndromes) |
腎上腺肌病2 | Nemaline myopathy 2 |
神經元類脂褐藻病(CLN3相關) | Neuronal ceroid-lipofuscinosis (CLN3-related) |
尼曼-匹克病A / B型 | Niemann-Pick disease type A/B |
鳥氨酸轉氨甲酰酶(OTC)缺乏症 | Ornithine transcarbamylase (OTC) deficiency* |
垂體綜合徵 | Pendred syndrome |
1型根狀軟骨發育不良/ Refsum病(與PEX7相關) | Rhizomelic chondrodysplasia punctata type 1/Refsum disease (PEX7-related) |
史密斯·萊姆利·奧普茲綜合徵 | Smith-Lemli-Opitz syndrome |
Tay-Sachs病/己糖胺酶A缺乏症 | Tay-Sachs disease/hexosaminidase A deficiency |
TMEM216相關疾病(包括Joubert綜合徵2和Meckel綜合徵2) | TMEM216-related disorders (including Joubert syndrome 2 and Meckel syndrome 2) |
Usher綜合徵IF / PCDH15型相關疾病 | Usher syndrome type IF/PCDH15-related disorders |
II型/ USH2A型Usher綜合徵相關疾病 | Usher syndrome type IIA/USH2A-related disorders |
IIIA型Usher綜合徵 | Usher syndrome type IIIA |
腎上腺神經營養不良 | X-linked adrenoleukodystrophy* |
X連鎖嚴重合併免疫缺陷病(X-SCID) | X-linked severe combined immunodeficiency (X-SCID)* |
Zellweger頻譜障礙(與PEX1相關) | Zellweger spectrum disorder (PEX1-related) |
Zellweger頻譜障礙(與PEX6相關) | Zellweger spectrum disorder (PEX6-related) |
心律失常綜合徵(SAMHD1相關) | Aicardi-Goutieres syndrome (SAMHD1-related) |
醛固酮合酶 | Aldosterone synthase deficiency |
溶酶體貯積病 | Alpha-mannosidosis |
地貧X連鎖性智力障礙綜合徵 | Alpha-thalassemia X-linked intellectual disability syndrome* |
Alport綜合徵(與COL4A3相關) | Alport syndrome (COL4A3-related) |
Alport綜合徵(與COL4A4相關) | Alport syndrome (COL4A4-related) |
X連鎖Alport綜合徵(與COL4A5相關) | Alport syndrome, X-linked (COL4A5-related)* |
Alström綜合徵 | Alström syndrome |
安德曼綜合徵/神經元病和a病的PN體發育不全 | Andermann syndrome |
精氨酸血症 | Arginase deficiency |
精氨酸琥珀酸尿症 | Argininosuccinic aciduria |
芳香酶缺乏症 | Aromatase deficiency |
天冬酰胺合成酶缺乏症 | Asparagine synthetase deficiency |
天冬氨酰葡糖尿 | Aspartylglucosaminuria |
缺乏維生素E的共濟失調 | Ataxia with vitamin E deficiency |
共濟失調毛細血管擴張 | Ataxia-telangiectasia |
自身免疫性多內分泌病伴念珠菌病和外胚層發育不良 | Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia |
常染色體隱性遺傳性耳聾77(DFNB77) | Autosomal recessive deafness 77 (DFNB77) |
Charlevoix-Saguenay(ARSACS)的常染色體隱性痙攣性共濟失調 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) |
Bardet-Biedl綜合徵(與BBS1相關) | Bardet-Biedl syndrome (BBS1-related) |
Bardet-Biedl綜合徵(與BBS2相關) | Bardet-Biedl syndrome (BBS2-related) |
Bardet-Biedl綜合徵(與BBS10相關) | Bardet-Biedl syndrome (BBS10-related) |
Bardet-Biedl綜合徵(與BBS12相關) | Bardet-Biedl syndrome (BBS12-related) |
IV型Bartter綜合徵(與BSND相關) | Bartter syndrome type IV (BSND-related) |
氨甲酰磷酸合成酶I缺乏症 | Carbamoylphosphate synthetase I deficiency |
肉鹼棕櫚酰轉移酶I缺乏症 | Carnitine palmitoyltransferase I deficiency |
木匠綜合症(與RAB23相關) | Carpenter syndrome (RAB23-related) |
軟骨-頭髮發育不全-血管發育異常譜系疾病 | Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders |
腦性黃瘤病 | Cerebrotendinous xanthomatosis |
進行性神經性腓骨萎縮症(與NDRG1相關) | Charcot-Marie-Tooth disease (NDRG1-related) |
與X染色體相關的神經系統疾病(與GJB1相關) | Charcot-Marie-Tooth disease, X-linked (GJB1-related)* |
膽囊吞噬 | Chorea-acanthocytosis |
脈絡膜炎 | Choroideremia* |
慢性肉芽腫病(與CYBA相關) | Chronic granulomatous disease (CYBA-related) |
慢性肉芽腫性疾病(與CYBB相關) | Chronic granulomatous disease (CYBB-related)* |
檸檬酸缺乏症 | Citrin deficiency |
庫卡因綜合徵A型 | Cockayne syndrome type A |
庫卡因綜合徵B型 | Cockayne syndrome type B |
科恩綜合症 | Cohen syndrome |
合併丙二酸和甲基丙二酸尿症(ACSF3相關) | Combined malonic and methylmalonic aciduria (ACSF3-related) |
聯合氧化磷酸化缺陷(與GFM1相關) | Combined oxidative phosphorylation deficiency (GFM1-related) |
聯合氧化磷酸化缺乏症(與TSFM相關) | Combined oxidative phosphorylation deficiency (TSFM-related) T |
合併垂體激素缺乏症(與LHX3相關) | Combined pituitary hormone deficiency (LHX3-related) |
合併垂體激素缺乏症(與PROP1相關) | Combined pituitary hormone deficiency (PROP1-related) |
合併SAP缺乏症 | Combined SAP deficiency |
先天性巨核細胞血小板減少症 | Congenital amegakaryocytic thrombocytopenia |
先天性糖基化疾病(與ALG6相關) | Congenital disorder of glycosylation (ALG6-related) |
先天性糖基化疾病(與MPI相關) | Congenital disorder of glycosylation (MPI-related) |
先天性魚鱗病(TGM1相關) | Congenital ichthyosis (TGM1-related) |
先天性對無汗症疼痛不敏感 | Congenital insensitivity to pain with anhidrosis |
先天性中性粒細胞減少症(與HAX1相關) | Congenital neutropenia (HAX1-related) |
角膜營養不良和知覺性耳聾 | Corneal dystrophy and perceptive deafness |
醛固酮合酶 | Aldosterone synthase deficiency |
膀胱炎 | Cystinosis |
D-雙功能蛋白缺乏症 | D-bifunctional protein deficiency |
DHDDS相關疾病(包括先天性糖基化/色素性視網膜炎59) | DHDDS-related disorders (including congenital disorder of glycoslylation/retinitis pigmentosa 59) |
營養不良性大皰性表皮鬆解症(與COL7A1相關) | Dystrophic epidermolysis bullosa (COL7A1-related) |
Ehlers-Danlos綜合徵,皮膚稀疏型 | Ehlers-Danlos syndrome, dermatosparaxis type |
埃利偉氏綜合徵/軟骨外胚層發育不良 | Ellis-van Creveld syndrome (EVC-related) |
埃利斯·凡·克里夫德綜合徵(與EVC2相關) | Ellis-van Creveld syndrome (EVC2-related) |
Emery-Dreifuss肌營養不良症(與EMD相關) | Emery-Dreifuss muscular dystrophy (EMD-related)* |
增強型S-錐體綜合徵/色素性視網膜炎37 | Enhanced S-cone syndrome/retinitis pigmentosa 37 |
丙二酸腦病 | Ethylmalonic encephalopathy |
法布里病/安德森-法布里( Anderson-Fabry)病 | Fabry disease* |
家族性高膽固醇血症(與LDLR相關) | Familial hypercholesterolemia (LDLR-related) |
家族性高膽固醇血症(LDLRAP1相關) | Familial hypercholesterolemia (LDLRAP1-related) |
家族性高胰島素血症(與KCNJ11相關) | Familial hyperinsulinism (KCNJ11-related) |
範可尼貧血A型 | Fanconi anemia type A |
範可尼貧血G型 | Fanconi anemia type G |
與FKRP相關(包括沃克-瓦爾堡綜合症) | FKRP-related disorders (including Walker-Warburg syndrome) |
富馬酸鹽水合酶缺乏症 | Fumarate hydratase deficiency |
半乳糖激酶缺乏症半乳糖血症 | Galactokinase deficiency galactosemia |
吉特曼綜合徵(SLC12A3相關) | Gitelman syndrome (SLC12A3-related) |
II型戊二酸血症(與ETFA相關) | Glutaric acidemia type II (ETFA-related) |
II型戊二酸血症(與ETFDH相關) | Glutaric acidemia type II (ETFDH-related) |
甘氨酸腦病(與AMT相關) | Glycine encephalopathy (AMT-related) |
甘氨酸腦病(與GLDC相關) | Glycine encephalopathy (GLDC-related) |
糖原貯積病Ib型 | Glycogen storage disease type Ib |
糖原貯積病III型 | Glycogen storage disease type III |
糖原貯積病IV型/成人聚葡聚醣體病 | Glycogen storage disease type IV/adult polyglucosan body disease |
糖原貯積病V型 | Glycogen storage disease type V |
磷酸果糖激酶缺乏症 | Glycogen storage disease type VII |
GRACILE綜合徵/ BCS1L相關疾病(包括線粒體複合體III缺乏症,Bjornstad綜合徵,Leigh綜合徵) | GRACILE syndrome/BCS1L-related disorders (including mitochondrial complex III deficiency, Bjornstad syndrome, Leigh syndrome) |
胍基乙酸甲酯甲基轉移酶缺乏症 | Guanidinoacetate methyltransferase deficiency |
遺傳性果糖不耐症 | Hereditary fructose intolerance |
遺傳性血色素沉著病(與HJV相關) | Hereditary hemochromatosis (HJV-related) |
遺傳性血色素沉著病(與TFR2相關) | Hereditary hemochromatosis (TFR2-related) |
赫曼斯基·普德拉克綜合症(與HPS1相關) | Hermansky-Pudlak syndrome (HPS1-related) |
赫曼斯基·普德拉克綜合症(與HPS3相關) | Hermansky-Pudlak syndrome (HPS3-related) |
整體羧化酶合成酶缺乏症 | Holocarboxylase synthetase deficiency |
由於MTHFR缺乏引起的同型半胱氨酸尿症 | Homocystinuria due to MTHFR deficiency |
同型半胱氨酸尿症,鈷胺素E型 | Homocystinuria, cobalamin E type |
1型水let綜合徵 | Hydrolethalus syndrome type 1 |
高蛋白血症-高氨血症-尿蛋白尿症(HHH)綜合徵 | Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome |
少汗性外胚層增生不良症(與EDA相關)* | Hypohidrotic ectodermal dysplasia (EDA-related)* |
低磷症 | Hypophosphatasia |
遺傳性包涵體肌病 | Inclusion body myopathy 2 |
大結節表皮鬆解術(LAMA3相關) | Junctional epidermolysis bullosa (LAMA3-related) |
大結節表皮鬆解症(與LAMB3相關) | Junctional epidermolysis bullosa (LAMB3-related) |
大結節表皮鬆解術(LAMC2相關) | Junctional epidermolysis bullosa (LAMC2-related) |
LAMA2相關性肌營養不良 | LAMA2-related muscular dystrophy |
萊伯先天性黑ur病2 | Leber congenital amaurosis 2 |
萊伯先天性黑ur病5 | Leber congenital amaurosis 5 |
萊伯先天性黑度8 / CRB1相關疾病 | Leber congenital amaurosis 8/CRB1-related disorders |
萊伯先天性黑ur病10 / CEP290相關疾病 | Leber congenital amaurosis 10/CEP290-related disorders |
萊伯先天性黑ur病13 | Leber congenital amaurosis 13 |
利氏症候群,法屬加拿大型 | Leigh syndrome, French Canadian type |
致命的先天性攣縮症候群1 /致命性關節軟化伴前角細胞病 | Lethal congenital contracture syndrome 1/lethal arthrogryposis with anterior horn cell disease |
白質消失的白質腦病(與EIF2B5相關) | Leukoencephalopathy with vanishing white matter (EIF2B5-related) |
肢帶型肌營養不良症2A型(鈣皮病) | Limb-girdle muscular dystrophy type 2A (calpainopathy) |
肢帶型肌營養不良症2B型(營養不良症) | Limb-girdle muscular dystrophy type 2B (dysferlinopathy) |
肢帶型肌營養不良症2C型 | Limb-girdle muscular dystrophy type 2C |
肢帶型肌營養不良症2D型 | Limb-girdle muscular dystrophy type 2D |
肢帶型肌營養不良症2E型 | Limb-girdle muscular dystrophy type 2E |
脂質先天性腎上腺增生(與STAR相關) | Lipoid congenital adrenal hyperplasia (STAR-related) |
脂蛋白脂肪酶缺乏症 | Lipoprotein lipase deficiency |
長鏈3-羥酰基輔酶A脫氫酶(LCHAD)缺乏 | Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency |
賴氨酸尿蛋白不耐受 | Lysinuric protein intolerance |
溶酶體酸性脂肪酶缺乏症(包括沃爾曼病和膽固醇酯貯積病) | Lysosomal acid lipase deficiency (includes Wolman disease and cholesterol ester storage disease) |
主要組織相容性複合物II類缺陷(與CIITA相關) | Major histocompatibility complex class II deficiency (CIITA-related) |
皮質下囊腫1型大腦白質腦病 | Megalencephalic leukoencephalopathy with subcortical cysts type 1 |
腦膜疾病/ ATP7A相關疾病*(包括枕角綜合徵和末梢遺傳性運動神經病) | Menkes disease/ATP7A-related disorders* (including occipital horn syndrome and distal hereditary motor neuropathy) |
異色性白細胞營養不良(與ARSA相關) | Metachromatic leukodystrophy (ARSA-related) |
甲基丙二酸血症伴高半胱氨酸尿症,鈷胺素C型 | Methylmalonic acidemia with homocystinuria, cobalamin C type |
甲基丙二酸血症伴高胱氨酸尿症,鈷胺素D型 | Methylmalonic acidemia with homocystinuria, cobalamin D type |
小眼/無眼球畸形(與VSX2相關) | Microphthalmia/clinical anophthalmia (VSX2-related) |
線粒體複合體I缺乏/李綜合徵(NDUFAF5相關) | Mitochondrial complex I deficiency/Leigh syndrome (NDUFAF5-related) |
線粒體複合體I缺乏/李綜合徵(NDUFS6相關) | Mitochondrial complex I deficiency/Leigh syndrome (NDUFS6-related) |
線粒體DNA耗竭綜合徵(與MPV17相關) | Mitochondrial DNA depletion syndrome (MPV17-related) |
線粒體肌病和鐵粒幼細胞貧血1 | Mitochondrial myopathy and sideroblastic anemia 1 |
線粒體神經胃腸道腦病(MNGIE) | Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease |
梅克爾綜合徵 | MKS1-related disorders |
II / III型血脂異常(與N-乙酰氨基葡萄糖-1-磷酸轉移酶相關) | Mucolipidosis type II/III (GNPTAB-related) |
III型血脂異常(與GNPTG相關) | Mucolipidosis type III (GNPTG-related) |
II型粘多醣貯積病(亨特綜合徵)* | Mucopolysaccharidosis type II (Hunter syndrome)* |
IIIA型黏多醣貯積症(Sanfilippo A綜合徵) | Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) |
黏多醣貯積症IIIB型 | Mucopolysaccharidosis type IIIB |
IIIC型黏多醣貯積症(Sanfilippo綜合徵)/色素性視網膜炎73 | Mucopolysaccharidosis type IIIC (Sanfilippo syndrome)/retinitis pigmentosa 73 |
IIID型黏多醣貯積症(Sanfilippo綜合徵) | Mucopolysaccharidosis type IIID (Sanfilippo syndrome) |
IVB型粘多醣貯積病(Morquio B綜合徵)/ GM1神經節病 | Mucopolysaccharidosis type IVB (Morquio B syndrome)/ GM1 gangliosidosis |
透明質酸酶缺乏症 | Mucopolysaccharidosis type IX |
VI型黏多醣貯積症(Maroteaux-Lamy綜合徵) | Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) |
多種硫酸酯酶缺乏症 | Multiple sulfatase deficiency |
N-乙酰谷氨酸合酶缺乏症 | N-acetylglutamate synthase deficiency |
腎性尿崩症(與AQP2相關) | Nephrogenic diabetes insipidus (AQP2-related) |
腎病綜合徵/先天性芬蘭腎病(與NPHS1相關) | Nephrotic syndrome/congenital Finnish nephrosis (NPHS1-related) |
腎病綜合徵/類固醇抵抗性腎病綜合徵(NPHS2相關) | Nephrotic syndrome/steroid-resistant nephrotic syndrome (NPHS2-related) |
神經元類固醇脂褐藻病(與MFSD8相關) | Neuronal ceroid-lipofuscinosis (MFSD8-related) |
神經元類脂褐藻病(PPT1相關) | Neuronal ceroid-lipofuscinosis (PPT1-related) |
神經元類脂褐藻病(與TPP1相關) | Neuronal ceroid-lipofuscinosis (TPP1-related) |
神經元類脂褐藻病(CLN5相關) | Neuronal ceroid-lipofuscinosis (CLN5-related) |
神經元類脂褐藻病(CLN6相關) | Neuronal ceroid-lipofuscinosis (CLN6-related) |
神經元類固醇脂褐藻病/北部癲癇(與CLN8相關) | Neuronal ceroid-lipofuscinosis/Northern epilepsy (CLN8-related) |
C型尼曼-皮克病(NPC1相關) | Niemann-Pick disease type C (NPC1-related) |
尼曼-皮克病C型(與NPC2相關) | Niemann-Pick disease type C (NPC2-related) |
奈梅亨破裂綜合徵 | Nijmegen breakage syndrome |
鳥氨酸氨基轉移酶缺乏症 | Ornithine aminotransferase deficiency |
骨質疏鬆症(TCIRG1相關) | Osteopetrosis (TCIRG1-related) |
過氧化物酶體酰基輔酶A氧化酶缺乏症 | Peroxisomal acyl-CoA oxidase deficiency |
磷酸甘油酸脫氫酶缺乏症/ Neu-Laxova綜合徵 | Phosphoglycerate dehydrogenase deficiency/Neu-Laxova syndrome |
polymicrogyria(ADGRG1相關) | Polymicrogyria (ADGRG1-related) |
與POMGNT1相關的疾病(包括眼部肌肉疾病) | POMGNT1-related disorders (including muscle eye brain disease) |
橋小腦發育不全(RARS2相關) | Pontocerebellar hypoplasia (RARS2-related) |
橋小腦發育不全(與SEPSECS相關) | Pontocerebellar hypoplasia (SEPSECS-related) |
橋小腦發育不全(VRK1相關) | Pontocerebellar hypoplasia (VRK1-related) |
產後進行性小頭畸形伴癲癇發作和腦萎縮/小兒腦和小腦萎縮(與MED17相關) | Postnatal progressive microcephaly with seizures and brain atrophy/infantile cerebral and cerebellar atrophy (MED17-related) |
全身性原發性肉鹼缺乏症 | Primary carnitine deficiency |
原發性睫狀運動障礙(與DNAH5相關) | Primary ciliary dyskinesia (DNAH5-related) |
原發性睫狀運動障礙(DNAI1相關) | Primary ciliary dyskinesia (DNAI1-related) |
原發性睫狀運動障礙(與DNAI2相關) | Primary ciliary dyskinesia (DNAI2-related) |
原發性高草酸尿症1型 | Primary hyperoxaluria type 1 |
原發性高草酸尿症2型 | Primary hyperoxaluria type 2 |
原發性高草酸尿症3型 | Primary hyperoxaluria type 3 |
2型進行性家族性肝內膽汁淤積 | Progressive familial intrahepatic cholestasis type 2 |
PRPS1相關疾病*(包括5型Charcot-Marie-Tooth病/藝術綜合症) | PRPS1-related disorders* (including Charcot-Marie-Tooth disease type 5 and Arts syndrome) |
膿皰性口病 | Pycnodysostosis |
丙酮酸羧化酶缺乏症 | Pyruvate carboxylase deficiency |
丙酮酸脫氫酶缺乏症(PDHA1相關)* | Pyruvate dehydrogenase deficiency (PDHA1-related)* |
丙酮酸脫氫酶缺乏症(PDHB相關) | Pyruvate dehydrogenase deficiency (PDHB-related) |
腎小管性酸中毒合併耳聾(ATP6V1B1相關) | Renal tubular acidosis with deafness (ATP6V1B1-related) |
色素性視網膜炎25 | Retinitis pigmentosa 25 |
色素性視網膜炎26 | Retinitis pigmentosa 26 |
色素性視網膜炎28 | Retinitis pigmentosa 28 |
根狀軟骨發育不良 | Rhizomelic chondrodysplasia punctata type 3 |
羅伯茨綜合徵 | Roberts syndrome |
RPGRIP1L相關疾病(包括喬伯特綜合徵7,COACH綜合徵/具有肝缺陷的Joubert綜合徵和麥克爾綜合徵5) | RPGRIP1L-related disorders (including Joubert syndrome 7, COACH syndrome and Meckel syndrome 5) |
RTEL-1相關疾病(包括先天性角化不全) | RTEL-1-related disorders (including dyskeratosis congenita) |
桑霍夫病 | Sandhoff disease |
Schimke免疫性骨發育不良 | Schimke immuno-osseous dysplasia |
嚴重的合併免疫缺陷(與DCLRE1C相關) | Severe combined immune deficiency (DCLRE1C-related) |
嚴重的免疫缺陷/綜合症綜合症(RAG2相關) | Severe combined immunodeficiency/Omenn syndrome (RAG2-related) |
嚴重的先天性中性粒細胞減少症(與VPS45相關) | Severe congenital neutropenia (VPS45-related) |
唾液酸貯積症 | Sialic acid storage disorders |
舍格倫-拉爾森綜合徵 | Sjögren-Larsson syndrome |
SLC26A2相關疾病(包括營養不良,2型骨質疏鬆症,1B型軟骨發育不良/多發性幹multi端發育不良) | SLC26A2-related disorders (including diatrophic dysplasia, atelosteogenesis type 2, achondrogenesis type 1B/multiple metaphyseal dysplasia) |
SLC35A3相關疾病 | SLC35A3-related disorder |
痙攣型截癱15 | Spastic paraplegia type 15 |
痙攣性截癱49型 | Spastic paraplegia type 49 |
胸腰椎發育不全 | Spondylothoracic dysostosis |
鋼症候群 | Steel syndrome |
史蒂夫-維德曼綜合徵 | Stüve-Wiedemann syndrome |
四氫生物蝶呤缺乏症(PTS相關) | Tetrahydrobiopterin deficiency (PTS-related) |
短暫性嬰兒肝衰竭(與TRMU相關) | Transient infantile liver failure (TRMU-related) |
酪氨酸羥化酶缺乏症 | Tyrosine hydroxylase deficiency |
II型酪氨酸血症 | Tyrosinemia type II |
IB型/ MYO7A型Usher綜合徵相關疾病 | Usher syndrome type IB/MYO7A-related disorders |
IC-USH1C型Usher綜合徵相關疾病 | Usher syndrome type IC/USH1C-related disorders |
Usher綜合徵類型ID | Usher syndrome type ID |
超長鏈酰基輔酶A脫氫酶(VLCAD)缺乏 | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency |
威爾遜氏病 | Wilson disease |
與WNT10A相關的疾病(包括牙齦炎,真皮不典型增生和Schopf-Schulz-Passarge綜合徵) | WNT10A-related disorders (including odonto-onycho-dermal dysplasia and Schopf-Schulz-Passarge syndrome) |
X連鎖肌酸轉運蛋白缺乏症* | X-linked creatine transporter deficiency* |
X連鎖青少年視網膜分裂症* | X-linked juvenile retinoschisis* |
X連鎖肌管肌病* | X-linked myotubular myopathy* |
色素乾皮補充組A | Xeroderma pigmentosum complementation group A |
色素乾皮補充組C | Xeroderma pigmentosum complementation group C |
Zellweger頻譜障礙(與PEX2相關) | Zellweger spectrum disorder (PEX2-related) |
Zellweger頻譜障礙(與PEX10相關) | Zellweger spectrum disorder (PEX10-related) |
Zellweger頻譜障礙(與PEX12相關) | Zellweger spectrum disorder (PEX12-related) |
3-甲基巴豆酰基-CoA-羧化酶(3-MCC)缺乏症(MCCC1相關) | 3-methylcrotonyl-CoA-caboxylase(3-MCC)deficiency(MCCC1-related) |
3-甲基巴豆酰-CoA-羧化酶(3-MCC)缺乏症(MCCC2相關) | 3-methylcrotonyl-CoA-caboxylase(3-MCC)deficiency(MCCC2-related) |
鹼性蛋白尿 | Alkaptonuria |
Alpha-1抗胰蛋白酶缺乏症 | Alpha-1 antitrypsin deficiency |
伯納德-蘇利耶綜合徵(與GP1BA相關) | Bernard-Soulier syndrome (GP1BA-related) |
伯納德-蘇利耶綜合徵(與GP9相關) | Bernard-Soulier syndrome (GP9-related) |
第五凝血因子萊登突變 | Factor V Leiden thrombophilia |
XI因子缺乏(血友病C) | Factor XI deficiency(hemophilia C) |
家族性地中海熱 | Familial Mediterranean fever |
遺傳性血色素沉著病(與HFE相關) | Hereditary hemochromatosis (HFE-related) |
凝血酶原相關的血栓形成 | Prothrombin-related thrombophilia |
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