產品: Meddx_301GeDNA

Meddx 301遺傳病基因測試 (單人)

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  • 適用於18歲或以上男士或女士

  • 婚前檢查、計劃生育、有家族性遺傳病歷史

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重點檢查項目:

  • 女性會進行301種測試,男性會進行279種測試

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  • 測試301種遺傳病基因
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  • 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2Nemaline 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37Enhanced 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2Leber congenital amaurosis 2
萊伯先天性黑ur病5Leber 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13Leber 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1Mitochondrial 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73Mucopolysaccharidosis 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25Retinitis pigmentosa 25
色素性視網膜炎26Retinitis pigmentosa 26
色素性視網膜炎28Retinitis 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15Spastic 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IDUsher 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AXeroderma pigmentosum complementation group A
色素乾皮補充組CXeroderma 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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