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新生儿遗传病检测G2

创建时间：2016-11-24 23:29

本项目检测的遗传病列表

HMG-CoA lyase Deficiency	Homocystinuria	Beta-ketothiolase deficiency	Bile Acid Synthesis Defect
Autism Susceptibility to,X-linked 3	Gaucher Disease	Holocarboxylase synthetase deficiency	Hypothyroidism,Congenital,Nongoitrous,4
Glutaric AcidemiaTypeⅡ	Citrullinemia，Classic	MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY	Congenital Disorder of Glycosylation Type Ia
Fabry Disease	Spinal muscular atrophy	sickle-hemoglobin C disease (Hb SC)	Hemachromatosis Type 3
Hepatolenticular degeneration	Hypertrophic Cardiomyopathy	Argininosuccinate Lyase Deficiency	Congenital Hyperinsulinism
Alcaptonuria	Senior-Loken Syndrome	Phenylketonuria	Hereditary Fructoseintolerance
HRD Syndrome	Methylmalonic Aciduria	Biotinidase Deficiency	Hereditary Tyrosinemia Type I
Progressive Familiar Intrahepatic ,II	Methylmalonicaciduria	X-Linked Severe Combined Immunodeficiency	Preexcitation Syndrome
Argininosuccinic Aciduria	VitaminD-resistant Rickets	Propionic Acidemia	Respiratory Distress Syndrome In Premature Infants
Segawa Syndrome	Dilated Cardiomyopathy	Systemic Primary Carnitine Deficiency	Xeroderma Pigmentosum
phosphoserine aminotransferase deficiency	Rett Syndrome	Nonsyndromic Hearing Impairment	Medium Chain Acyl-CoA Dehydrogenase Deficiency
hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome	Adrenal Hyperplasia	Alpha-Thalassemia	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Glycogen Storage Disease II	Glucose-6-PhosphateDehydrogenase(G6PD) Deficiency	β-Thalassemia	Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Aspartylglucosaminuria	Neural Tube Defects	Galactosemia	3-methylcrotonyl-CoA carboxylase deficiency
Pendred Syndrome	Glutaric Aciduria Type I	Dunchenne's Muscular Dystrophy	homozygous Hb SS
Isovaleric Acidemia	Diarrhea Diseases	Maple syrup Urine Disease	CFTR-Related Disorders
Beta-ketothiolase deficiency	Bile Acid Synthesis Defect	Deafness and Hereditary Hearing Loss	Critical congenital heart disease

筛查基因列表

ETFDH	HBB	GALT	ASS1	PMM2
ATP7B	PAH	DMD	PRKAG2	ALDOB
ASL	BTD	BCKDHA	MMAB	ACADM
GAA	IL2RG	DBT	MUT	MCCC1
AGA	PCCB	BCKDHB	MECP2	MCCC2
SLC26A4	SLC22A5	CBS	FOXG1	CFTR
HADHA	GJB2	GBA	GCDH