Announcement: Change of Service Provider (effective on 1 Sep 2025)

About Carrier screening

Gene List and Residual Risk* (effective on 1 Sep 2025)

  • CUHK Customized ECS Panel: This panel includes 302 genes for female and 280 genes for male (excluding X-linked conditions), details see in 🔗.
  • GeneAware™ Comprehensive ECS Panel: This panel covers an expanded set of rare conditions and totally includes 611 genes for female and 559 genes for male (excluding X-linked conditions) , details see in 🔗.

* Remarks: If there is any conflict regarding the disease name in the above documents, the description in the final report shall prevail.

CUHK Customized ECS Panel Conditions in Chinese 🔗

DISORDER疾病Inheritance
3-hydroxy-3-methylglutarayl-CoA (HMG-CoA) lyase deficiency3-羥基-3-甲基戊二酰輔酶A(HMG-CoA)裂解酶缺乏症AR
3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC1-related)三甲基巴豆醯輔酶A梭化酶缺乏症(MCC1相關)AR
3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC2-related)三甲基巴豆醯輔酶A梭化酶缺乏症(MCC2相關)AR
ABCC8-related disordersABCC8相關疾病AR
Abetalipoproteinemia無β脂蛋白血症AR
ACAD9 deficiency醯輔酶A去氫酶9缺乏症≤1 in 500AR
Achromatopsia (CNGB3-related)全色盲(CNGB3相關)AR
Acrodermatitis enteropathica腸源性肢端皮炎AR
Adenosine deaminase deficiency腺苷脱氨酶缺乏症AR
Aicardi-Goutieres syndrome (SAMHD1-related)Aicardi-Goutieres綜合症(SAMHD1相關)AR
Aldosterone synthase deficiency醛固酮合成酶缺乏症AR
Mitochondrial trifunctional protein deficiency, HADHB-related線粒體三功能蛋白缺乏症 (HADHB-相關)AR
Alpha-1 antitrypsin deficiencyα1-抗胰蛋白酶缺乏症AR
Alpha-mannosidosisα-甘露糖苷貯積症AR
Alpha-thalassemia甲型地中海貧血AR
Alpha-thalassemia X-linked intellectual disability syndrome伴甲型地中海貧血性聯遺傳智力低下綜合症X-linked
Alport Syndrome (COL4A3-related)亞伯氏綜合症(COL4A3相關)AR
Alport Syndrome (COL4A4-related)亞伯氏綜合症(COL4A4相關)AR
Alport Syndrome, X-linked (COL4A5-related)性聯遺傳亞伯氏綜合症(COL4A5相關)X-linked
Alström syndrome阿爾斯特倫綜合症AR
Andermann syndrome安德曼綜合症AR
Arginase deficiency精氨酸酶缺乏症AR
Argininosuccinic aciduria精氨基琥珀酸尿症AR
Aromatase deficiency芳香化酶缺乏症AR
Asparagine synthetase deficiency天門冬醯胺合成酶缺乏症AR
Aspartylglucosaminuria天門冬氨酸葡萄糖胺尿症AR
Ataxia with vitamin E deficiency共濟失調伴選擇性
維他命E缺乏
AR
Ataxia-telangiectasia共濟失調微血管擴張症AR
Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia自體免疫性多內分泌病變伴陰道念珠菌感染伴外胚層增生不良症AR
Autosomal recessive deafness 77常染色體隱性77型失聰AR
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)Charlevoix-Saguenay常染色體隱性痙攣性共濟失調AR
Bardet-Biedl syndrome (BBS10-related)巴德-畢德氏綜合症(BBS10相關)AR
Bardet-Biedl syndrome (BBS12-related)巴德-畢德氏綜合症(BBS12相關)AR
Bartter syndrome type 4A巴特氏綜合症第4A型AR
BBS1-related disordersBBS1相關疾病AR
BBS2-related disordersBBS2相關疾病AR
Bernard-Soulier syndrome (GP9-related)Bernard-Soulier綜合症(GP9相關) AR
Beta-ketothiolase deficiencyβ-酮硫解酶缺乏症AR
Biotinidase deficiency生物素酶缺乏症AR
Bloom syndrome布隆氏綜合症AR
Canavan disease海綿狀腦白質營養不良症AR
Carbamoylphosphate synthetase I deficiency氨甲酰磷酸合成酶I缺乏症AR
Carnitine palmitoyltransferase I deficiency肉鹼棕櫚醯基轉移酶I缺乏症AR
Carnitine palmitoyltransferase II deficiency肉鹼棕櫚醯基轉移酶II缺乏症AR
Carpenter syndrome (RAB23-related)Carpenter綜合症(RAB23相關)AR
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders軟骨-毛髮發育不全-異常增生譜系疾病AR
Cerebrotendinous xanthomatosis腦腱性黃瘤症AR
CFTR-related disorders (including cystic fibrosis)CFTR相關疾病(包括囊狀纖維化)AR
Charcot-Marie-Tooth disease (NDRG1-related)進行性神經性腓骨萎縮症(NDRG1相關)AR
Charcot-Marie-Tooth disease, X-linked (GJB1-related)進行性神經性腓骨萎縮症性聯遺傳(GJB1相關)X-linked
Chorea-acanthocytosis舞蹈棘狀紅血球症AR
Choroideremia脈絡膜缺失症X-linked
Chronic granulomatous disease (CYBA-related)慢性肉芽腫病(CYBA相關)AR
Chronic granulomatous disease (CYBB-related)慢性肉芽腫病(CYBB相關)X-linked
Citrin deficiency希特林蛋白缺陷症AR
Citrullinemia type 1瓜胺酸血症第1型AR
Cockayne syndrome type A柯凱因氏綜合症A型AR
Cockayne syndrome type B柯凱因氏綜合症B型AR
Cohen syndrome科恩綜合症AR
Combined malonic and methylmalonic aciduria (ACSF3-related)丙二酸及甲基丙二酸聯合尿症(ACSF3相關) AR
Combined oxidative phosphorylation deficiency (GFM1-related)結合性氧化磷酸化缺乏症(GFM1相關)AR
Combined oxidative phosphorylation deficiency (TSFM-related)結合性氧化磷酸化缺乏症(TSFM相關)AR
Combined pituitary hormone deficiency (LHX3-related)結合性腦下垂體賀爾蒙缺失(LHX3相關)AR
Combined pituitary hormone deficiency (PROP1-related)結合性腦下垂體賀爾蒙缺失(PROP1相關)AR
Congenital adrenal hyperplasia due to 11-beta-hydroxylase-deficiency先天性腎上腺增生症-11β羥化酶缺失症AR
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency先天性腎上腺增生症-21羥化酶缺失症AR
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency先天性腎上腺增生症3β羥基類固醇脫氫酶缺乏症2型AR
Congenital amegakaryocytic thrombocytopenia先天性巨核細胞缺乏血小板低下症AR
Congenital disorder of glycosylation (ALG6-related)先天性醣基化疾病(ALG6相關)AR
Congenital disorder of glycosylation (MPI-related)先天性醣基化疾病(MPI相關)AR
Congenital disorder of glycosylation (PMM2-related)先天性醣基化疾病(PMM2相關)AR
Congenital ichthyosis (TGM1-related)先天性魚鱗癬(TGM1相關)AR
Congenital insensitivity to pain with anhidrosis先天性痛覺不敏感併無汗症AR
Congenital myasthenic syndrome (CHRNE-related)先天性肌無力綜合症(CHRNE相關)AR
Corneal dystrophy and perceptive deafness角膜失養和感音性失聰症AR
CYP17A1-related disordersCYP17A1相關疾病AR
Cystinosis胱胺酸症AR
DHDDS-related disordersDHDDS相關疾病AR
Dihydrolipoamide dehydrogenase deficiency (DLD)二氫硫辛醯胺脫氫酶缺乏症(DLD)AR
DMD-related dystrophinopathy裘馨氏肌肉萎縮症(DMD相關)X-linked
Dysferlinopathy肌鐵蛋白缺陷型肌營養不良症AR
Dystrophic epidermolysis bullosa (COL7A1-related)營養不良性大皰性表皮鬆解症(COL7A1相關)AR
Ehlers-Danlos syndrome, dermatosparaxis type埃勒斯當洛斯綜合症(皮膚脆裂型)AR
Ellis-van Creveld syndrome (EVC2-related)埃利偉氏綜合症(EVC2相關)AR
Ellis-van Creveld syndrome (EVC-related)埃利偉氏綜合症(EVC相關)AR
Emery-Dreifuss muscular dystrophy (EMD-related)EmeryDreifuss肌肉萎縮症(EMD相關)X-linked
Enhanced S-cone syndrome/ retinitis pigmentosa 37增強型S錐綜合症/視網膜色素病變37型AR
Ethylmalonic encephalopathy乙基丙二酸腦病變AR
Carnitine-acylcarnitine translocase deficiency肉鹼-醯基肉鹼轉位酶缺乏症AR
Bardet-Biedl syndrome 6巴德-畢德氏綜合症(6型)AR
Fabry disease法布瑞氏症X-linked
Factor IX deficiency (Hemophilia B)凝血因子IX缺乏症(乙型血友病)X-linked
Factor XI deficiency (Hemophilia C)第11凝血因子缺乏症(血友病C)AR
Familial dysautonomia家族性自主神經失調症AR
Familial hypercholesterolemia (LDLRAP1-related)家族性高膽固醇血症(LDLRAP1相關)AR
Familial hypercholesterolemia (LDLR-related)家族性高膽固醇血症(LDLR相關)AR
Familial mediterranean fever家族性地中海熱AR
Fanconi anemia type A范科尼貧血A型AR
Fanconi anemia type C范科尼貧血C型AR
Fanconi anemia type G范科尼貧血G型AR
FKRP-related disordersFKRP相關疾病AR
FKTN-related disordersFKTN相關疾病AR
Fragile X syndrome脆性X綜合症X-linked
Fumarate hydratase deficiency延胡索酸酶缺乏症AR
Galactokinase deficiency galactosemia半乳糖激酶缺乏症AR
Galactosemia (GALT-related)半乳糖血症(GALT相關)AR
Gaucher disease高雪氏症AR
Gitelman syndrome (SLC12A3-related)吉特曼氏
綜合症(SLC12A3相關)
AR
GJB2-related DFNB1 nonsyndromic hearing loss and deafnessGJB2相關DFNB1非綜合症性聽力損失和耳聾AR
GLE1-related disordersGLE1相關疾病AR
Glucose-6-phosphate dehydrogenase (G6PD) deficiency6-磷酸葡萄糖脫氫酶(G6PD)缺乏症(蠶豆症)X-linked
Glutaric acidemia type I戊二酸血症1型AR
Glutaric acidemia type IIA戊二酸血症2A型AR
Glutaric acidemia type IIC戊二酸血症2C型AR
Glycine encephalopathy (AMT-related)甘氨酸腦病(AMT相關)AR
Glycine encephalopathy (GLDC-related)甘氨酸腦病(GLDC相關)AR
Glycogen storage disease type IA肝醣儲積症1A型AR
Glycogen storage disease type IB肝醣儲積症1B型AR
Glycogen storage disease type II (Pompe disease)肝醣儲積症2型(龐貝氏症)AR
Glycogen storage disease type III肝醣儲積症3型AR
Glycogen storage disease type IV/ adult polyglucosan body disease肝醣儲積症4型(成人葡萄糖多聚体體病)AR
Glycogen storage disease type V肝醣儲積症5型AR
Glycogen storage disease type VII肝醣儲積症7型AR
GP1BA-related conditionsGP1BA相關疾病AR
GRACILE syndrome/ BCS1L-related disordersGRACILE綜合症/BCS1L相關疾病AR
Guanidinoacetate methyltransferase deficiency胍基乙酸甲基轉移酶缺乏症AR
HBB-related hemoglobinopathiesHBB相關血紅蛋白病AR
Hereditary fructose intolerance遺傳性果糖不耐症AR
3-hydroxyacyl-CoA dehydrogenase deficiency3-羥基輔酶A脫氫酶缺乏症AR
Hereditary hemochromatosis type 2 (HJV-related)遺傳性血色素沉著症2型(HJV相關)AR
Hereditary hemochromatosis type 3遺傳性血色素沉著症3型AR
Hermansky-Pudlak syndrome type 1HermanskyPudlak綜合症1型AR
Hermansky-Pudlak syndrome type 3HermanskyPudlak綜合症3型AR
Holocarboxylase synthetase deficiency多發性羧化酶缺乏症AR
Homocystinuria due to CBS deficiency胱硫醚β合成酶缺乏性高胱氨酸尿症AR
Homocystinuria due to MTHFR deficiency高胱胺酸尿症(因缺乏亞甲基四氫葉酸還原酶)AR
Homocystinuria, cobalamin E type高胱胺酸尿症(鈷胺素E型)AR
HSD17B4-related disordersHSD17B4相關疾病AR
Hydrolethalus syndrome type 1Hydrolethalus綜合症1型AR
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome高鳥氨酸血症-高氨血症-同型瓜氨酸尿綜合症AR
Hypohidrotic ectodermal dysplasia (EDA-related)少汗性外胚層發育不良症(EDA相關)X-linked
Hypophosphatasia低磷酸酯酶症AR
Inclusion body myopathy 2包涵體肌炎2型AR
Isovaleric acidemia異戊酸血症AR
Joubert syndrome 2/ TMEM216-related disorders茹貝爾綜合症2型/TMEM216相關疾病AR
Junctional epidermolysis bullosa (LAMB3-related)接合性表皮溶解水皰症(LAMB3相關)AR
Junctional epidermolysis bullosa (LAMC2-related)接合性表皮溶解水皰症(LAMC2相關)AR
KCNJ11-related disordersKCNJ11相關疾病AR
Krabbe disease球細胞腦白質失養症(Krabbe病)AR
LAMA2-related muscular dystrophyLAMA2相關肌肉失養症AR
LAMA3-related disordersLAMA3相關疾病AR
Leber congenital amaurosis 10/ CEP290-related disorders萊伯氏先天性黑矇症10型/CEP290相關疾病AR
Leber congenital amaurosis 13萊伯氏先天性黑矇症13型AR
Leber congenital amaurosis 5萊伯氏先天性黑矇症5型AR
Leber congenital amaurosis 8/ CRB1-related disorders萊伯氏先天性黑矇症8型/CRB1相關疾病AR
Leigh syndrome, French Canadian type Leigh綜合症法裔加拿大型AR
Leukoencephalopathy with vanishing white matter (EIF2B5-related)白質消融性白質腦病(EIF2B5相關)AR
Limb-girdle muscular dystrophy type 2A (calpainopathy)肢帶型肌肉失養症2A型(鈣蛋白酶病)AR
Limb-girdle muscular dystrophy type 2C肢帶型肌肉失養症2C型AR
Limb-girdle muscular dystrophy type 2D肢帶型肌肉失養症2D型AR
Limb-girdle muscular dystrophy type 2E肢帶型肌肉失養症2E型AR
Lipoid congenital adrenal hyperplasia先天性類脂性腎上腺皮質增生症AR
Lipoprotein lipase deficiency脂蛋白酶脂解酵素缺乏症AR
Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency長鏈3-羥烷基輔酶A脫氫酶缺乏症AR
Lysinuric protein intolerance賴氨酸尿蛋白不耐受症AR
Lysosomal acid lipase deficiency溶酶體酸性脂肪酶缺乏症AR
Major histocompatibility complex class II deficiency (CIITA-related)主要組織相容性複合體Ⅱ類分子缺陷(CIITA相關)AR
Maple syrup urine disease (MSUD) type 1A楓糖尿症1A型AR
Maple syrup urine disease (MSUD) type 1B楓糖尿症1B型AR
Maple syrup urine disease (MSUD) type 2楓糖尿症2型AR
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency中鏈醯輔酶Α去氫酶缺乏症AR
Megalencephalic leukoencephalopathy with subcortical cysts type 1巨腦性腦白質病伴皮層下囊腫1型AR
Menkes disease/ ATP7A-related disorders孟克斯氏症/ATP7A相關疾病X-linked
Metachromatic leukodystrophy (ARSA-related)異染性腦白質營養不良(ARSA相關)  AR
Methylmalonic acidemia (MMAA-related)甲基丙二酸血症(MMAA相關)AR
Methylmalonic acidemia (MMAB-related)甲基丙二酸血症(MMAB相關)AR
Methylmalonic acidemia (MUT-related)甲基丙二酸血症(MUT相關)AR
Methylmalonic acidemia with homocystinuria, cobalamin C type甲基丙二酸血症併高胱胺酸血症(鈷胺素C型)AR
Methylmalonic acidemia with homocystinuria, cobalamin D type甲基丙二酸血症併高胱胺酸血症(鈷胺素D型)AR
Microphthalmia /clinical anophthalmia (VSX2-related)小眼畸形/臨床無眼畸形(VSX2相關)AR
Mitochondrial complex I deficiency/ Leigh syndrome (NDUFAF5-related)粒線體酵素複合物I缺乏症/Leigh綜合症(NDUFAF5相關)AR
Mitochondrial complex II deficiency/ Leigh syndrome (NDUFS6- related)粒線體酵素複合物II缺乏症/Leigh綜合症(NDUFS6相關)AR
Mitochondrial DNA depletion syndrome (MPV17-related)粒線體DNA耗竭綜合症(MPV17相關)AR
Mitochondrial myopathy and sideroblastic anemia 1粒線體肌病和鐵粒細胞性貧血1型AR
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease粒線體神經胃腸腦病變症AR
MKS1-related disordersMKS1相關疾病AR
Mucolipidosis type II/III (GNPTAB-related)黏脂質症2/3型(GNPTAB相關)AR
Mucolipidosis type III (GNPTG-related)黏脂質症3型(GNPTG相關)AR
Mucolipidosis type IV黏脂質症4型AR
Mucopolysaccharidosis type I黏多醣症1型AR
Mucopolysaccharidosis type II (Hunter syndrome)黏多醣症2型(韓特氏綜合症)X-linked
Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)黏多醣症3A型(聖菲利柏氏綜合症A型)AR
Mucopolysaccharidosis type IIIB (Sanfilippo B syndrome)黏多醣症3B型(聖菲利柏氏綜合症B型)AR
Mucopolysaccharidosis type IIIC (Sanfilippo C syndrome)/ retinitis pigmentosa 73黏多醣症3C型(聖菲利柏氏綜合症C型)/視網膜色素病變73型AR
Mucopolysaccharidosis type IIID (Sanfilippo D syndrome)黏多醣症3D型(聖菲利柏氏綜合症D型)AR
Mucopolysaccharidosis type IVB (Morquio B syndrome)/ GM1 gangliosidosis黏多醣症4B型(莫奎歐綜合症B型)/GM1神經節苷脂儲積症AR
Mucopolysaccharidosis type IX黏多醣症9型AR
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)黏多醣症6型(Maroteaux-Lamy綜合症)AR
Multiple sulfatase deficiency多發性硫酸脂酶缺乏症AR
N-Acetylglutamate synthase deficiencyN-乙醯穀胺酸合成酶缺乏症AR
Nemaline myopathy 2桿狀體肌症-2型AR
Nephrogenic diabetes insipidus (AQP2-related)腎性尿崩症(AQP2相關)AR
Nephrotic syndrome/ congenital Finnish nephrosis (NPHS1-related)腎病綜合症(NPHS1相關) AR
Nephrotic syndrome/steroid-resistant nephrotic syndrome (NPHS2-related)類固醇抗性腎病綜合症(NPHS2相關)AR
Neuronal ceroid lipofuscinosis (TPP1-related)神經元蠟樣脂褐質沉著症(TPP1相關)AR
Neuronal ceroid-lipofuscinosis (CLN3-related)神經元蠟樣脂褐質沉著症(CLN3相關)AR
Neuronal ceroid-lipofuscinosis (CLN5-related)神經元蠟樣脂褐質沉著症(CLN5相關)AR
Neuronal ceroid-lipofuscinosis (CLN6-related)神經元蠟樣脂褐質沉著症(CLN6相關)AR
Neuronal ceroid-lipofuscinosis (MFSD8-related)神經元蠟樣脂褐質沉著症(MFSD8相關)AR
Neuronal ceroid-lipofuscinosis (PPT1-related)神經元蠟樣脂褐質沉著症(PPT1相關)AR
Neuronal ceroid-lipofuscinosis/ Northern epilepsy (CLN8-related)神經元蠟樣脂褐質沉著症/北方癲癇型(CLN8相關)AR
Niemann-Pick disease type A/B尼曼匹克症A/B型AR
Niemann-Pick disease type C (NPC1-related)尼曼匹克症C型(NPC1相關)AR
Niemann-Pick disease type C (NPC2-related)尼曼匹克症C型(NPC2相關)AR
Nijmegen breakage syndrome奈梅亨破損綜合症AR
OPA3-related conditionsOPA3相關疾病AR
Ornithine aminotransferase deficiency鳥胺酸酮酸轉胺酶缺乏症AR
Ornithine transcarbamylase (OTC) deficiency鳥胺酸氨甲醯基轉移酶缺乏症X-linked
Osteopetrosis (TCIRG1-related)骨質石化症(TCIRG1相關)AR
Pendred syndromePendred氏綜合症AR
Peroxisomal acyl-CoA oxidase deficiency過氧化物酶酰基輔酶A氧化酶缺乏症AR
Phenylalanine hydroxylase deficiency (including Phenylketonuria (PKU))苯丙氨酸羥化酶缺乏症(包括苯酮尿症)AR
Phosphoglycerate dehydrogenase deficiency/ Neu-Laxova syndrome type 1磷酸甘油酸脫氫酶缺乏症/Neu-Laxova綜合症1型AR
Polycystic kidney disease (PKHD1-related)多囊性腎病變(PKHD1相關)AR
Polymicrogyria (ADGRG1-related)多小腦回(ADGRG1相關)AR
POMGNT1-related disordersPOMGNT1相關疾病AR
Pontocerebellar hypoplasia (RARS2-related)橋腦小腦發育不全(RARS2相關)AR
Pontocerebellar hypoplasia (SEPSECS-related)橋腦小腦發育不全(SEPSECS相關)AR
Postnatal progressive microcephaly with seizures and brain atrophy/ Infantile cerebral and cerebellar atrophy (MED17-related)產後進行性小頭畸形伴癲癇發作和腦萎縮/嬰兒腦和小腦萎縮(MED17相關)AR
Primary carnitine deficiency原發性肉鹼缺乏症AR
Primary Ciliary Dyskinesia (DNAH5-related)原發性纖毛運動障礙(DNAH5相關)AR
Primary Ciliary Dyskinesia (DNAI1-related)原發性纖毛運動障礙(DNAI1相關)AR
Primary Ciliary Dyskinesia (DNAI2-related)原發性纖毛運動障礙(DNAI2相關)AR
Primary hyperoxaluria type 1原發性高草酸尿症1型AR
Primary hyperoxaluria type 2原發性高草酸尿症2型AR
Primary hyperoxaluria type 3原發性高草酸尿症3型AR
Progressive familial intrahepatic cholestasis type 2進行性家族性肝內膽汁滯留症2型AR
Propionic acidemia (PCCA-related)丙酸血症(PCCA相關)AR
Propionic acidemia (PCCB-related)丙酸血症(PCCB相關)AR
PRPS1-related disordersPRPS1相關疾病X-linked
PSAP-related disordersPSAP相關疾病AR
Pycnodysostosis緻密性成骨不全症AR
Pyruvate carboxylase deficiency丙酮酸羧化酶缺乏症AR
Pyruvate dehydrogenase complex deficiency (PDHA1-related)丙酮酸鹽脫氫酶缺乏症(PDHA1相關)X-linked
Pyruvate dehydrogenase complex deficiency (PDHB-related)丙酮酸鹽脫氫酶缺乏症(PDHB相關)AR
RAPSN-related disordersRAPSN相關疾病AR
Renal tubular acidosis with deafness (ATP6V1B1-related)腎小管酸中毒伴失聰(ATP6V1B1相關)AR
Retinitis pigmentosa 25視網膜色素病變25型AR
Retinitis pigmentosa 26視網膜色素病變26型AR
Retinitis Pigmentosa 28視網膜色素病變28型AR
Rhizomelic chondrodysplasia punctata type 1/ Refsum disease (PEX7-related)肢近端型點狀軟骨發育不良1型/雷弗素姆病(PEX7相關)AR
Rhizomelic chondrodysplasia punctata type 3肢近端型點狀軟骨發育不良3型AR
Roberts syndrome羅伯氏綜合症AR
RPE65-related disordersRPE65相關疾病AR
RPGRIP1L-related disordersRPGRIP1L相關疾病AR
RTEL-1-related disordersRTEL-1相關疾病AR
Sandhoff diseaseSandhoff病/GM2神經節苷脂儲積症AR
Schimke immuno-osseous dysplasiaSchimke免疫骨發育不良AR
Severe combined immune deficiency (DCLRE1C-related)嚴重聯合免疫缺陷症(DCLRE1C相關)AR
Severe combined immunodeficiency (RAG2-related)嚴重聯合免疫缺陷症(RAG2相關) AR
Severe congenital neutropenia due to VPS45-deficiency嚴重先天性嗜中性球減少症(因VPS45缺失)AR
Severe congenital neutropenia type 3嚴重先天性嗜中性球減少症3型AR
Sialic acid storage disorders唾液酸貯積症AR
Sjögren-Larsson syndromeSjögren-Larsson氏綜合症AR
SLC26A2-related disordersSLC26A2相關疾病AR
SLC35A3-related disordersSLC35A3相關疾病AR
Smith-Lemli-Opitz syndromeSmith-Lemli-Opitz綜合症AR
Spastic paraplegia type 15痙攣性下身麻痺15型AR
Spastic paraplegia type 49痙攣性下身麻痺49型AR
Spinal muscular atrophy脊髓性肌肉萎縮症AR
Spondylothoracic dysostosis脊椎肋骨發育不全AR
Steel Syndrome鋼鐵綜合症AR
Stüve-Wiedemann syndromeStüve-Wiedemann綜合症AR
Tay-Sachs disease/ hexosaminidase A deficiency戴薩克斯症/己醣胺酶A缺乏症AR
Tetrahydrobiopterin deficiency (PTS-related)四氫生物蝶呤缺乏症(PTS相關)AR
Transient infantile liver failure急性新生兒肝衰竭AR
Tyrosine hydroxylase deficiency酪胺酸羥化酶缺乏症AR
Tyrosinemia type I酪胺酸血症1型AR
Tyrosinemia type II酪胺酸血症2型AR
Usher syndrome type IB/ MYO7A-related disorders尤塞氏綜合症1B型/MYO7A相關疾病AR
Usher syndrome type IC/ USH1C-related disorders尤塞氏綜合症1C型/USH1C相關疾病AR
Usher syndrome type ID尤塞氏綜合症1D型AR
Usher syndrome type IF/ PCDH15-related disorders尤塞氏綜合症1F型/PCDH15相關疾病AR
Usher syndrome type IIA/ USH2A-related disorders尤塞氏綜合症2A型/USH2A相關疾病AR
Usher syndrome type IIIA尤塞氏綜合症3A型AR
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency特長鏈醯輔酶A去氫酶缺乏症AR
VRK1-related disordersVRK1相關疾病AR
Wilson disease威爾森氏症AR
WNT10A-related disordersWNT10A相關疾病AR
Xeroderma pigmentosum complementation group A著色性乾皮症-A型AR
Xeroderma pigmentosum complementation group C著色性乾皮症-C型AR
X-linked adrenoleukodystrophy性聯遺傳腎上腺白質營養不良X-linked
X-linked creatine transporter deficiency性聯遺傳肌酸轉運載體缺乏症X-linked
X-linked juvenile retinoschisis性聯遺傳視網膜裂損症X-linked
X-linked myotubular myopathy性聯遺傳肌小管病變X-linked
X-linked severe combined immunodeficiency (X-SCID)性聯遺傳嚴重聯合免疫缺陷症X-linked
Zellweger spectrum disorder (PEX10-related)柴爾維格氏症(PEX10相關) AR
Zellweger spectrum disorder (PEX12-related)柴爾維格氏症(PEX12相關) AR
Zellweger spectrum disorder (PEX1-related)柴爾維格氏症(PEX1相關)AR
Zellweger spectrum disorder (PEX2-related)柴爾維格氏症(PEX2相關) AR
Zellweger spectrum disorder (PEX6-related)柴爾維格氏症(PEX6相關) AR

Sample requirement:

3 tubes*3mL/tube (total 9mL) of whole blood in Lavender-top K2 EDTA tubes per individual.

– Blood samples should be stored at room temperature if sent to our lab on the same day. If they are to be sent to us the next day, please store them at 4℃.

Report Turn-Around-Time:

– 3-4 weeks after samples received by CUHK.

Service price:

Please follow the effective laboratory services charge and turn-around time form.