Genetic Metabolic Disease Screening

Genetic metabolic disease screening refers to the screening, diagnosis and timely treatment of some serious congenital and genetic metabolic diseases before the clinical symptoms of newborns, which can avoid irreversible damage to children's physique and intelligence. The national comprehensive prevention and control plan for birth defects issued by our country in 2018 clearly points out the goal: the screening rate of neonatal genetic metabolic diseases will reach 98%.

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Applicable People

• Pregnant women over 35 years old
• One of the couples is a chromosomal translocation carrier
• Those who have given birth to children with chromosomal disorders
• Those who have given birth to a child with Down syndrome
• There have been multiple unexplained miscarriages, stillbirths, stillbirths
• Parents with family history of inherited metabolic disease
• Couples who have congenital metabolic diseases or have had children with metabolic diseases
• Severe sex-linked genetic disease in the family
• Pregnant women who have been exposed to harmful substances (radiation, pesticides) for a long time

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Detection Indicator

16 amino acid metabolism diseases

Phenylketonuria, Maple Diabetes, Homocystinuria, Hypermethioninemia, Citrullinemia Type 1, Tyrosinemia Type 2, Nonketotic Hyperglycinemia, Hyperprolinemia , argininosuccinic aciduria, homocystinuria, argininemia, hyperornithinemia, hyperammonemia, homocitrullinuria syndrome, ornithine carbamoyl phosphotransferase Deficiency, tetrahydrobiopterin deficiency

15 diseases of organic acid metabolism

Methylmalonic acidemia, propionic acidemia, glutaric acidemia type 1, malonic acidemia, β-ketothiolase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, isovaleric acidemia, holocarboxylase synthesis deficiency, biotinidase deficiency, isobutyryl-CoA deaminase deficiency, 2-methylbutyryl-CoA dehydrogenase deficiency, methylmalonic acidemia with homocysteinemia, 3-methylglutaryl-CoA hydrolase deficiency, 2-methyl -3-Hydroxybutyryl-CoA dehydrogenase deficiency

14 fatty acid oxidative metabolism diseases

Carnitine/acylcarnitine translocase deficiency, carnitine transport disorder, ethylmalonic acidemia, 2,4-dienoyl-CoA dehydrogenase deficiency, long-chain acyl-CoA dehydrogenase deficiency , very long-chain acyl-CoA dehydrogenase deficiency, short-chain acyl-CoA dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, very long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency , short-chain-3-hydroxyacyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase deficiency, mitochondrial trifunctional protein deficiency, carnitine palmitoyltransferase deficiency type 1, 2, medium chain 3 - Ketoacyl coenzyme thiolase deficiency

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Method Advantage

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Sample Type

Heel blood

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Blood Collection Volume

Dried blood tablets