Metabolic Disorders

Genetic testing can help uncover the cause of persistent, often debilitating, undiagnosed symptoms in patients suffering from suspected metabolic disorders. Our Bio/Databank contains extensive information on variants in over 1,250 metabolic -disease- related genes. Our extensive experience in metabolic diseases can help you diagnose and manage your patients’ metabolic disorder quickly and more precisely. Genetic testing can provide new insights into treatment options and predict the likelihood of passing the inherited condition onto children. It can also help identify other affected and non-affected family members.

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CentoICU® is a comprehensive NGS panel that includes genes explicitly selected for the genetic testing of critically ill newborns and children under 24 months in intensive care units (ICU). It is designed to address multiple genetic conditions that may be present in the newborn or early childhood period, with many having overlapping phenotypes and immediate implications for treatment initiation. It allows clinicians to utilize just one single test to provide an accurate diagnosis of newborn-related diseases using dried blood spots.

No. of genes: 856
TAT: 15 business days
Coverage: ≥99.00% ≥20x

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  • Alagille syndrome
  • Alpha-Thalassemia
  • Arginase deficiency
  • Beta-Thalassemia
  • Biotinidase deficiency
  • Biotin-thiamine-responsive basal ganglia disease
  • Carnitine deficiency
  • Congenital hypothyroidism
  • Cystic Fibrosis
  • Dystonia DOPA responsive
  • Factor VII deficiency
  • Glucose transporter 1 deficiency
  • Glutaric acidemia Type 1
  • Hereditary fructose intolerance
  • Holocarboxylase synthetase deficiency
  • Maple syrup urine disease (MSUD)
  • Non ketotic hyperglicinemia
  • Phenylketonuria
  • Pompe disease
  • Primary coenzyme Q10 deficiency
  • Pyridoxamine 5 phosphate oxidase deficiency
  • Pyridoxine-dependent epilepsy
  • Pyruvate carboxylase deficiency
  • Tuberous sclerosis complex
  • Tyrosinemia type I
  • VLCAD deficiency

*List does not include all disorders covered by our panel


CENTOGENE CentoICU Brochure English PDF

CentoICU Brochure

Because life begins today


Inborn Errors of Metabolism (IEM) largely impact human diseases. CentoIEM is a metabolic and liver disease gene panel that screens for an array of different disorders and contains genes responsible for diverse phenotypes, including intermediary metabolism, such as aminoacidopathies, organic acidurias, urea cycle disorders, sugar intolerance, mental disorders, and porphyrias, among others. Genes linked to cytoplasmic and mitochondrial energetic processes and metabolism affecting cellular organelles, such as lysosomal, peroxisomal, glycosylation, and cholesterol synthesis are also included.

No. of genes: 744
TAT: 25 business days
Coverage: ≥99.00% ≥20x
NGS including CNV analysis

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