More than 40 analysis in one test. Diagnosis of hereditary diseases

Diagnosis of more than 40 genetically determined diseases (GDDs) in one test!

HMD is a group of hereditary diseases due to mutations in genes that lead to severe metabolic defects. Diagnosis is carried out from 0 to 18 years old.

The total prevalence of diseases is 1 case per 1000 newborns.

Test material: capillary blood.

Determination method: tandem mass spectrometry.

Early diagnosis - reducing the risk of disability and mortality of every child!

The most common symptoms of diseases that you need to pay attention to:

• autism spectrum disorders
• decreased activity, against the background of full health
• autism
• convulsive disorder
• body weight deficiency
• jaundice of unknown cause
• refusal to eat, vomiting/regurgitation, etc.
• progressive mental/speech retardation
• development (delayed mental growth, developmental speech delay)
• "unusual" body and urine odor
• crossed eyes, retinopathy, and other visual impairments
• cardiodystrophy
• lethargy
• tremor, rigidity, muscle hyportension
• hypoglycemia (decrease of blood sugar)
• liver failure
• thromboembolism

Hereditary metabolic diseases (HMD) diagnosed in the analysis:

• Classical phenylketonuria
• Atrophy of the vascular membrane of the eye
• Other types of hyperphenylalaninemia
• Tyrosine metabolic imbalance
• Tyrosinemia type I
• Tyrosine metabolic imbalance
• Tyrosinemia type II 
• Tyrosine metabolic imbalance
• Tyrosinemia type III 
• Histidinemia
• Forminoglutamic acidemia
• Branched chain ketonuria
• Branched chain ketonuria, type III
• E3-deficient form with lactic acidosis
• Isovalerian acidemia
• Barth syndrome
• 3-hydro-3-methylglutaric aciduria
• Deficiency of beta-ketothiolase
• Methylcrotonyl-CoA carboxylase deficiency
• 2-Methyl-3-hydroxybutyryl aciduria
• 2-Methylbutyryl glycinuria
• Isobutyrylglycinuria
• Hypervalinemia
• Methylmalonic acidemia
• Methylmalonic acidemia and homocystinuria
• Propionic acidemia
• Deficiency of a very long chain of acyl-CoA dehydrogenase
• Deficiency of the middle chain of acyl-CoA dehydrogenase
• Short chain deficiency of acyl-CoA dehydrogenase
• Glutaric acidemia, type II
• Long-chain deficiency of L-3-hydroxy acyl-CoA dehydrogenase
• Trifunctional protein deficiency
• Deficiency of the middle chain of ketoacyl-CoA thiolase
• 2,4-dienoyl-CoA reductase deficiency
• Carnitine palmitoyltransferase deficiency I 
• Carnitine palmitoyltransferase deficiency II 
• Deficiency of carnitine acylcarnitine translocase
• Short-chain deficiency of L-3-hydroxy acyl-CoA dehydrogenase
• Malonic acidemia
• Carnitine transport deficiency
• Adrenoleukodystrophy, X-linked
• Homocystinuria
• Homocystinuria is a megalobastic anemia
• Methylcobalamin deficiency
• Methyltetrahydrophylate reductase deficiency
• Hypermethioninemia
• Argininemia
• Argininosuccinaciduria
• Type I citrullinemia
• Type II citrullinemia
• Deficiency of carbamoyl phosphate synthetase
• Hyperammonemia
• Glutaric acidemia, type I
• Hyperlysinemia
• Hyperornithinemia syndrome hyperammonemia-homocitrullinemia
• Non-ketone hyperglycinemia
• Hyperhydroxyprolinemia
• Hyperprolinemia, type I
• Hyperprolinemia, type II
• Pyruvate carboxylase deficiency
• Primary lactic acidemia
• Deficiency of succinyl-CoA ligase
• Ethylmalonic encephalopathy
• Pyroglutamic acidemia
• Multiple carboxylase deficiency

The analysis is available in the treatment rooms at the following addresses:

More:

(2) 59-79-69 (through Kazakhstan)

36-30-05 (for Semei city)

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