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Metabolic system

Location>Home>Metabolic system>M006:Neonatal metabolic


The newborn is named as the babies or children which born to 28 days. Neonatal disease screening is to detect the congenital, genetic diseases or serious damage for health of special inspection, and to reduce birth defects of the birth population for early diagnosis and treatment. Mygenostics neonatal metabolic panel, is to capture the  neonatal metabolic disease genes using target area capture technology and new generation of high-throughput sequencing technology. And in the meantime, it can be in early screening of patients with  neonatal metabolic disease, as well as to realize individualized medication and specificity of gene therapy to provide important basis for patients through combining with the history, clinical manifestation and information.
Neonatal metabolic V3 - a panel covers 12 kinds of inherited metabolic diseases
1 phenylketonuria
2 Tyrosine metabolic disorders
3 Histidinemia
4 nonketotic hyperglycinemia
5 Urea Cycle Disorders
6 Homocystinemia
7 L - 2 - hydroxy butyric acid urine disease
8 Dopamine response muscular tension
9 Carnitine deficiency
10 Vitamin B6 dependency epilepsy
11 Rett syndrome
12 Partington syndrome
13 citrin deficiency
14 Imino-acid disease
15 GABA metabolism
16 Steroids metabolic diseases
17 Other metabolic diseases
18 hyperammonemia
19 Maple diabetes
20 Biotin related diseases
21 methylmalonic aciduria
22 glutaric aciduria
23 3 - methyl pentene diacid enuresis
24 2 - methyl butyryl - coenzyme A dehydrogenase deficiency
25 Glutaric acid urine disease type II
26 Butyl acyl coenzyme A dehydrogenase deficiency
27 The metabolism of creatine related diseases
28 Cockayne syndrome
29 Folic acid metabolism disorder
30 Sexual development related diseases
31 Branched chain amino acid metabolic disorders