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FamilyCODE
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"FamilyCODE™DR135 "所檢測的遺傳病

77 種
遺傳性代謝病
8種
遺傳性視力聽力障礙
4種
遺傳性泌尿疾病
19種
多系統綜合症及
其他遺傳病
15種
遺傳性血液免疾病
12種
遺傳性神經肌肉病

Diseases 疾病

Medium-chain acyl-CoA dehydrogenase deficiency

中鏈乙酰輔酶A脫氫酶缺乏症

Short-chain acyl-CoA dehydrogenase deficiency

短鏈酰基輔酶A脫氫酶缺乏症

Very long-chain acyl-CoA dehydrogenase deficiency

極長鏈酰基輔酶A脫氫酶缺乏症

Beta-ketothiolase deficiency

β-酮硫解酶缺乏症

Aspartylglucosaminuria

天冬氨酰葡糖胺尿症

Glycogen storage disease type III

糖原貯積病III型

Sjögren-Larsson syndrome

Sjogren-Larsson綜合症

Hereditary fructose intolerance

遺傳性果糖不耐受症

Congenital disorder of glycosylation

先天性糖基化障礙

Hypophosphatasia

低磷酸酯酶症

Arginase deficiency

精氨酸酶缺乏症

Metachromatic leukodystrophy

異染性腦白質營養不良

Mucopolysaccharidosis type VI

粘多醣貯積症VI型

Argininosuccinate lyase deficiency

精氨琥珀酸裂解酶缺乏症

Citrullinemia type I

瓜氨酸血症I型

Wilson disease

Wilson病

Bardet-Biedl syndrome types 1, 2 and 10

巴-比二氏綜合症1,2及10型

Maple syrup urine disease types Ia, Ib and II

楓糖尿症Ia型、Ib型和II型

Biotinidase deficiency

生物素酶缺乏症

Homocystinuria

高胱氨酸尿症

Dihydrolipoamide dehydrogenase deficiency

二氫硫辛酰胺脫氫酶缺乏症

Carnitine palmitoyltransferase I deficiency

肉鹼棕櫚酰轉移酶I缺乏症

Carnitine palmitoyltransferase II deficiency

晚發型肉鹼棕櫚酰轉移酶II缺乏症

Cystinosis

胱氨酸貯積症

Neuronal ceroid lipofuscinosis

神經元蠟樣質脂褐質沉積病

Cerebrotendinous xanthomatosis

腦腱黃瘤病

Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz綜合症

Dihydropyrimidine dehydrogenase deficiency

二氫嘧啶脫氫酶缺乏症

Glutaric acidemia type II

戊二酸血症II型

Ethylmalonic encephalopathy

乙基丙二酸腦病

Tyrosinemia type I

酪氨酸血症I型

Glucose-6-phosphate dehydrogenase deficiency

葡萄糖-6-磷酸脫氫酶缺乏症

Glycogen storage disease type II

糖原貯積病II型

Krabbe disease

Krabbe病

Mucopolysaccharidosis type IV, subtype A

粘多醣貯積症IV A型

Galactosemia type I

半乳糖血症I型

Glycogen storage disease type IV

糖原貯積病IV型

Glutaric acidemia type I

戊二酸血症I型

Mucopolysaccharidosis type VII

粘多醣貯積症VII型

Fabry disease

Fabry病

GLB1-related disorders

GM1神經節苷脂貯積症及黏多醣貯積症IVB型

Glycine encephalopathy

甘氨酸腦病

Mucolipidosis II alpha/beta and Mucolipidosis III alpha/beta

黏脂質貯積症IIα/IIβ型和IIIα/IIIβ型

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

長鏈3-羥酰基輔酶A脫氫酶缺乏病

Hexosaminidase A deficiency, including Tay-Sachs disease

Tay-Sachs病

Sandhoff disease

Sandhoff病

Holocarboxylase synthetase deficiency

羧化全酶合成酶缺乏症

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

3-羥基-3-甲基戊二酰輔酶A裂解酶缺乏症

Mucopolysaccharidosis type II

粘多醣貯積症II型

Mucopolysaccharidosis type I

粘多醣貯積症I型

Isovaleric academia

異戊酸血症

Lysosomal acid lipase deficiency

溶酶體酸性脂肪酶缺乏症

Alpha-mannosidosis

α-甘露糖苷貯積症

Mucolipidosis type IV

黏脂質貯積症IV型

MLC1-related megalencephalic leukoencephalopathy with subcortical cysts

MLC1相關巨腦性腦白質營養不良伴皮質下囊腫

Isolated methylmalonic academia

單純型甲基丙二酸血症

Methylmalonic acidemia with homocystinuria type cblC

甲基丙二酸血症伴同型半胱氨酸血症cblC型

Abetalipoproteinemia

無β-脂蛋白血症

Ornithine transcarbamylase deficiency

鳥氨酸氨甲酰基轉移酶缺乏症

Phenylalanine hydroxylase deficiency

苯丙氨酸羥化酶缺乏症

Pyruvate carboxylase deficiency

丙酮酸羧化酶缺乏症

Propionic academia

丙酸血症

Peroxisome biogenesis disorders, Zellweger syndrome spectrum

過氧化物酶體生物合成障礙及澤爾韋格綜合症譜系

Rhizomelic chondrodysplasia punctata type 1

肢近端型點狀軟骨發育不良I型

BH4-deficient hyperphenylalaninemia

四氫生物喋呤缺乏症

Glycogen storage disease type V

糖原貯積病V型

Mucopolysaccharidosis type III

粘多醣貯積症III型

Sialic acid storage disease, including Salla disease

唾液酸貯積症(包括Salla病)

Systemic primary carnitine deficiency

原發性肉鹼缺乏症

Citrin deficiency

希特林蛋白缺乏症

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

高鳥氨酸血症-高氨血症-同型瓜氨酸尿症綜合症

Glycogen storage disease type I, subtypes Ia and Ib

糖原貯積病I型

Lysinuric protein intolerance

賴氨酸尿性蛋白不耐受症

Niemann-Pick disease types A, B, C1 and C2

尼曼-匹克病A,B,C1和C2型

Multiple sulfatase deficiency

多種硫酸酯酶缺乏症

Tyrosine hydroxylase deficiency

酪氨酸羥化酶缺乏症

Ataxia with vitamin E deficiency

共濟失調伴維生素E缺乏症

X-linked adrenoleukodystrophy
X連鎖腎上腺腦白質營養不良

Adenosine deaminase deficiency

腺苷脫氨酶缺乏症

X-linked agammaglobulinemia

X連鎖無丙種球蛋白血症

Immunodeficiency with hyper-IgM type 1

高IgM免疫缺陷病I型

X-linked chronic granulomatous disease

X連鎖慢性肉芽腫性疾病

Fanconi anemia, complementation group C

範可尼貧血互補群C型

Autosomal recessive severe congenital neutropenia

常染色體隱性遺傳重症先天性中性白細胞減少症

Alpha-thalassemia

α-地中海貧血

Beta-hemoglobinopathies, including beta-thalassemia and sickle cell disease

β-血紅蛋白病(包括β地中海貧血和鐮刀型細胞貧血症)

Chediak-Higashi syndrome

Chédiak-Higashi綜合症

Congenital amegakaryocytic thrombocytopenia

先天性純巨核細胞再生障礙性血小板減少症

Autosomal recessive chronic granulomatous disease

常染色體隱性遺傳慢性肉芽腫性疾病

Familial hemophagocytic lymphohistiocytosis

家族性噬血細胞性淋巴組織細胞增多症

X-linked lymphoproliferative syndrome type 1

X連鎖淋巴增殖綜合徵I型

WAS-related disorders (including Wiskott-Aldrich syndrome, X-linked congenital neutropenia and X-linked thrombocytopenia)

WAS相關疾病(包括威斯科特—奧爾德里奇綜合徵,X連鎖先天性嗜中性白血球減少症和X連鎖血小板減少症)

Ataxia-telangiectasia

共濟失調性毛細血管擴張症

Limb-girdle muscular dystrophy type 2, subtypes 2A, 2C, 2D and 2E

肢帶型肌營養不良2A,2C,2D和2E亞型

Congenital myasthenic syndrome

先天性肌無力綜合症

Leukoencephalopathy with vanishing white matter

白質消融性白質腦病

Congenital dystroglycanopathies, including Fukuyama congenital muscular dystrophy, muscle-eye-brain disease and Walker-Warburg syndrome

先天性肌營養不良蛋白聚醣病變(包括Fukuyana型先天性肌營養不良, 肌-眼-腦疾病,和Walker-Warburg綜合徵)

Nonaka myopathy

Nonaka肌病

L1 syndrome

L1綜合症

PLA2G6-associated neurodegeneration

PLA2G6相關神經退行性病變(包括嬰兒神經軸索營養不良)

POLG-related disorders

POLG相關疾病

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

常染色體隱性遺傳Charlevoix-Saguenay痙攣性共濟失調

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

遺傳性運動感覺性神經病伴有胼胝體發育不全

Spinal muscular atrophy

脊髓性肌萎縮

Usher syndrome type 3A

Usher綜合症3A型

CYP1B1-related glaucoma

CYP1B1相關青光眼

GJB2-related nonsyndromic hearing loss type DFNB1

GJB2相關非綜合徵性聽力損失1型

X-linked Ocular albinism

X連鎖眼皮膚白化病

Usher syndrome type 1

Usher綜合症1型

Pendred syndrome and non-syndromic deafness type DFNB4

耳聾-甲狀腺腫綜合徵/常染色體隱性遺傳非綜合徵性聽力損失DFNB4型

Oculocutaneous albinism types 1A, 1B, 2 and 4

眼皮膚白化病1A,1B,2和4型

Usher syndrome type 2A

Usher綜合症2A型

Familial hyperinsulinism

家族性胰島功能亢進

Laron syndrome

Laron綜合症

X-linked adrenal hypoplasia congenital

X連鎖先天性腎上腺發育不全

Combined pituitary hormone deficiency types 1, 2 and 3

聯合性垂體激素缺乏症1,2和3型

Ehlers-Danlos syndrome, cardiac valvular form

心臟瓣膜型Ehlers-Danlos綜合症

Autosomal recessive congenital ichthyosis type 4

常染色體隱性遺傳先天性魚鱗病4型

Autosomal recessive epidermolysis bullosa dystrophica

營養不良性大皰性表皮鬆懈症

Ehlers-Danlos syndrome type VI

Ehlers-Danlos綜合症VI型

Autosomal recessive congenital ichthyosis type 1

常染色體隱性遺傳先天性魚鱗癬I型

Primary hyperoxaluria

原發性高草酸尿症

Autosomal recessive Alport syndrome

常染色體隱性遺傳Alport綜合症

Nephrotic syndrome types 1 and 2

腎病綜合徵1和2型

Polycystic kidney disease, autosomal recessive type

常染色體隱性遺傳多囊腎病

Cystic fibrosis

囊性纖維化

Alpha-1-antitrypsin deficiency

α1-抗胰蛋白酶缺乏症

ABCB11 deficiency, including progressive familial intrahepatic cholestasis type 2 and benign recurrent intrahepatic cholestasis type 2

ABCB11缺乏症(包括進行性家族性肝內膽汁淤積症2型和良性複發性肝內膽汁淤積2型)

ATP8B1 deficiency, including progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1

ATP8B1缺乏症(包括進行性家族性肝內膽汁淤積症1型和良性複發性肝內膽汁淤積1型)

SLC26A2-related disorders, including atelosteogenesis type II, achondrogenesis type IB, diastrophic dysplasia and multiple epiphyseal dysplasia-4

SLC26A2相關疾病(包括骨發育不全II型,軟骨成長不全IB型,骨畸形發育不良和多發性骨骺發育)

Shwachman-Diamond syndrome

Shwachman-Diamond綜合症

Joubert syndrome

Joubert綜合症

Nijmegen breakage syndrome

Nijmegen斷裂綜合症

Lowe syndrome

Lowe綜合症

Mitochondrial trifunctional protein deficiency

線粒體三功能蛋白缺乏症

Gene 基因

ACADM

ACADS

ACADVL

ACAT1

AGA

AGL

ALDH3A2

ALDOB

ALG6, DPM1, MOGS, SLC35C1, B4GALT1, SLC35A1, ALG1, DOLK, PMM2, MPI, DPAGT1

ALPL

ARG1

ARSA

ARSB

ASL

ASS1

ATP7B

BBS1, BBS10, BBS2

BCKDHA, BCKDHB, DBT

BTD

CBS

DLD

CPT1A

CPT2

CTNS

CTSD, MFSD8, CLN3, CLN5, CLN6, CLN8, PPT1, TPP1

CYP27A1

DHCR7

DPYD

ETFA, ETFDH, ETFB

ETHE1

FAH

G6PD

GAA

GALC

GALNS

GALT

GBE1

GCDH

GUSB

GLA

GLB1

GLDC, AMT

GNPTAB

HADHA

HEXA

HEXB

HLCS

HMGCL

IDS

IDUA

IVD

LIPA

MAN2B1

MCOLN1

MLC1

MMAB, MMAA, MUT

MMACHC

MTTP

OTC

PAH

PC

PCCA, PCCB

PEX6, PEX1

PEX7

PTS, QDPR, GCH1

PYGM

SGSH, NAGLU, HGSNAT, GNS

SLC17A5

SLC22A5

SLC25A13

SLC25A15

SLC37A4, G6PC

SLC7A7

SMPD1, NPC1, NPC2

SUMF1

TH

TTPA

ABCD1

ADA

BTK

CD40LG

CYBB

FANCC

G6PC3, HAX1

HBA1/HBA2

HBB

LYST

MPL

NCF1, CYBA, NCF2

PRF1, UNC13D

SH2D1A

WAS

ATM

CAPN3, SGCG, SGCA, SGCB

CHRNE, COLQ, DOK7, RAPSN, CHAT, CHRNA1

EIF2B5

FKTN, LARGE, POMGNT1, POMT1, POMT2

GNE

L1CAM

PLA2G6

POLG

SACS

SLC12A6

SMN1

CLRN1

CYP1B1

GJB2

GPR143

MYO7A, USH1C, CDH23, PCDH15, USH1G

SLC26A4

TYR, OCA2, SLC45A2

USH2A

ABCC8, KCNJ11

GHR

NR0B1

POU1F1, PROP1, LHX3

COL1A2

ABCA12

COL7A1

PLOD1

TGM1

AGXT, GRHPR

COL4A3, COL4A4

NPHS1, NPHS2

PKHD1

CFTR

SERPINA1

ABCB11

ATP8B1

SLC26A2

SBDS

AHI1, CEP290

NBN

OCRL

HADHB

詳細疾病列表可在此下載

A detailed disease list with classification and the corresponding genes examined can be downloaded here

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