Newborn Screening of Inherited Metabolic Diseases by NGS

Shenzhen Uni-medica Technology Co., Ltd (Uni-medica) is a national high-tech enterprise in the field of genetic diseases and reproductive health, providing specialized genetic testing for newborns and children. Uni-medica has the international leading strength in high-throughput sequencing technology and bioinformatics data analysis, and is committed to becoming a leader in the field of precise prevention of birth defectsin.

The company's technical research team is located at Harvard University. It has established cooperation with the Hong Kong University of Science. The company owns a leading genetic testing technology, automated bioinformatic analysis system, and leading domestic phenotype and genotype association database,

which can provide automated and localized solutions for genetic disease NGS detection and analysis. It has undertaken scientific research projects such as the Shenzhen Peacock Plan technology research and development project and the Shenzhen core technology breakthrough project, and has applied for more than domestic, international patents and software copyright.

Uni-medica has established a high-quality comprehensive team, including talents from Shenzhen Peacock Program, Doctor of Biomedicine, Genetic interpretation expert. Chief scientists and Academic leaders are from Hong Kong University of Science and Technology and Harvard University, and have brought together outstanding medical experts at home and abroad, and have won high recognition from clinical clients.

Inherited metabolic disease

Phenylketonuria

Hyperphenylalaninemia, BH4-deficient, A

Hyperphenylalaninemia, BH4-deficient, C

Hyperphenylalaninemia, mild, non-BH4-deficient

Hyperphenylalaninemia, BH4-deficient, D

Hyperphenylalaninemia, BH4-deficient, B

Dystonia, dopa-responsive, due to sepiapterin reductase deficiency

Tyrosinemia, type I

Tyrosinemia, type II

Tyrosinemia, type III

Maple syrup urine disease, type Ia

Maple syrup urine disease, type Ib

Maple syrup urine disease, type II

Dihydrolipoamide dehydrogenase deficiency

Carbamoylphosphate synthetase I deficiency

Ornithine transcarbamylase deficiency

N-acetylglutamate synthase deficiency

Citrullinemia, type I

Citrullinemia, type II

Argininosuccinic aciduria

Argininemia

Gyrate atrophy of choroid and retina with or without ornithinemia

Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome

Homocystinuria, B6-responsive and nonresponsive types

Homocystinuria due to MTHFR deficiency

Homocystinuria-megaloblastic anemia, cblG complementation type

Homocystinuria-megaloblastic anemia, cblE type

Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency

Glycine N-methyltransferase deficiency

Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

Hyperprolinemia, type I

Glycine encephalopathy

Methylmalonic aciduria and homocystinuria, cblC type

Methylmalonic aciduria and homocystinuria, cblD type

Methylmalonic aciduria and homocystinuria, cblF type

Mental retardation, X-linked 3

Methylmalonic aciduria and homocystinuria, cblJ type

Methylmalonic aciduria, mut(0) type

Methylmalonic aciduria, cblA type

Methylmalonic aciduria, cblB type

Mitochondrial DNA depletion syndrome 5

Mitochondrial DNA depletion syndrome 9

Methylmalonyl-CoA epimerase deficiency

Combined malonic and methylmalonic aciduria

Methylmalonic aciduria, transient, due to transcobalamin receptor defect

Methylmalonate semialdehyde dehydrogenase deficiency

Propionicacidemia

Isovaleric acidemia

Glutaricaciduria, type I

3-Methylcrotonyl-CoA carboxylase 1 deficiency

3-Methylcrotonyl-CoA carboxylase 2 deficiency

3-methylglutaconic aciduria, type I

Barth syndrome

HMG-CoA lyase deficiency

Holocarboxylase synthetase deficiency

Biotinidase deficiency

Beta-ketothiolase deficiency

2-methylbutyrylglycinuria

Isobutyryl-CoA dehydrogenase deficiency

L-2-hydroxyglutaric aciduria

Ethylmalonic encephalopathy

Malonyl-CoA decarboxylase deficiency

CPT II deficiency

Carnitine-acylcarnitine translocase deficiency

Acyl-CoA dehydrogenase, short-chain, deficiency of

Acyl-CoA dehydrogenase, medium chain, deficiency of

VLCAD deficiency

LCHAD deficiency

Trifunctional protein deficiency

Glutaric acidemia II

3-hydroxyacyl-CoA dehydrogenase deficiency

2,4-dienoyl-CoA reductase deficiency

Mucopolysaccharidosis Ih / Ih/s /Is

Mucopolysaccharidosis II

Mucopolysaccharidosis type IIIA (Sanfilippo A)

Mucopolysaccharidosis type IIIB (Sanfilippo B)

Mucopolysaccharidosis IVA

GM1-gangliosidosis, type I / II /III

Mucopolysaccharidosis VII

Mucopolysaccharidosis type VI (Maroteaux-Lamy)

Niemann-Pick disease, type A / B

Niemann-Pick disease, type C1

Niemann-pick disease, type C2

Gaucher disease, perinatal lethal

Fabry disease

Tay-Sachs disease

Krabbe disease

Krabbe disease, atypical

Metachromatic leukodystrophy

Glycogen storage disease II

Mucolipidosis II alpha/beta, III alpha/beta

Glycogen storage disease Ia

Glycogen storage disease Ib / Ic

Glycogen storage disease IIIa / III b

Glycogen storage disease VI

Glycogen storage disease, type IX

Galactosemia

Galactokinase deficiency with cataracts

Galactose epimerase deficiency

Fructose intolerance, hereditary

Pyruvate carboxylase deficiency

Epilepsy, pyridoxine-dependent

Pyridoxamine 5'-phosphate oxidase deficiency

GLUT1 deficiency syndrome

Neu-Laxova syndrome 1

Phosphoserine aminotransferase deficiency

Phosphoserine phosphatase deficiency

Cerebral creatine deficiency syndrome 3

Cerebral creatine deficiency syndrome 2

Cerebral creatine deficiency syndrome 1

Segawa syndrome, recessive

Aromatic L-amino acid decarboxylase deficiency

Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency

HSD10 mitochondrial disease

Adrenoleukodystrophy

Wilson disease

Menkes disease

Achondroplasia

Hemolytic anemia due to G6PD deficiency

Crigler-Najjar syndrome, [Gilbert syndrome]

Genetic disease

Hemophilia B attribute is sex chromosome inheritance, characterized by impairment of activated partial thromboplastin, prolonged coagulation time, bleeding symptoms are mild than Hemophilia A, and spontaneous bleeding can occur in severe patients without obvious trauma.

Genetic diagnosis of hemophilia is an effective and accurate method, and is currently mainly analyzed by PCR.

Deafness genetic testing is through the detection of human DNA, found whether the existence of deafness gene mutation sites. For the family has congenital deafness members or thus clear the cause, has a good preventive significance for the reoccurrence of deafness

Congenital deaf children with genetic factors can be detected early through genetic testing. Early intervention and rehabilitation measures to effectively avoid prelingual deafness, children with potential drug-induced deafness can be found, and give clear and targeted drug guidance and tips to avoid drug-induced deafness.

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