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®

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 days
Coverage: ≥99.00% ≥20x

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COMMON SYNDROMES AND DISORDERS COVERED
  • 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

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CENTOGENE CentoICU Brochure English PDF

CentoICU Brochure

Because life begins today

CentoIEM

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 days
Coverage: ≥99.00% ≥20x
Details:
NGS including CNV analysis

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COMMON SYNDROMES AND DISORDERS COVERED
  • Aicardi-Goutieres syndrome
  • Autoimmune lymphoproliferative syndrome 
  • Ceroid lipofuscinosis
  • Congenital glycosylation disease
  • Familial hypercholesterolemia
  • Fatty acid oxidation disorder
  • Fatty liver disease
  • Glycogen storage disease
  • Hemophagocytic lymphohistiocytosis
  • Hereditary hemochromatosis
  • Hereditary spherocytosis
  • Leigh syndrome and mitochondrial encephalopathy
  • Leukodystrophy and peroxisome biogenesis disorders
  • Lipodystrophy syndromes
  • Lysosomal storage disease
  • Maple syrup urine disease
  • Methylmalonic acidemia
  • Mucopolysaccharidosis
  • Neurodegeneration with Brain Iron Accumulation
  • Non-ketotic hyperglycinemia
  • Organic acidemias
  • Porphyria
  • Refsum disease
  • Urea cycle disorder

CentoMetabolic® MOx

CentoMetabolic® MOx was developed specifically for patients suspected of having a metabolic disorder or presenting complex, overlapping symptoms, a metabolic crisis, or neurological conditions of unknown etiology. It provides short turnaround times –, targeting  critically ill patients in NICU/PICU. It leverages a multiomic approach by including enzyme -activity testing where applicable, as well as a proprietary selection of biomarkers that is continuously updated.

No. of genes: 206
TAT: 15 days
Coverage: ≥99.50% ≥20x
Details:
NGS including CNV analysis

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Common syndromes and disorders covered
  • Congenital disorders of glycosylation and other disorders of protein modification
  • Defects in cholesterol and lipoprotein metabolism
  • Defects in hormone biogenesis or function
  • Disorder of phosphate, calcium and vitamin D metabolism
  • Disorders in the metabolism of purines, pyrimidines and nucleotides
  • Disorders in the metabolism of trace elements and metals
  • Disorders in the metabolism of vitamins and (non-protein) cofactors
  • Disorders of amino acid and peptide metabolism
  • Disorders of carbohydrate metabolism
  • Disorders of energy metabolism
  • Disorders of fatty acid and ketone body metabolism
  • Disorders of lipid and lipoprotein metabolism
  • Disorders of neurotransmitter metabolism
  • Disorders of porphyrin and heme metabolism
  • Disorders of the metabolism of sterols
  • Lysosomal disorders
  • Peroxisomal disorders
  • Porphyria and bilirubinemia

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CENTOGENE CentoMetabolic MOx Product Sheet English PDF

CentoMetabolic MOx – Product Sheet

More answers today. More options tomorrow.

CentoMito® comprehensive

CentoMito® comprehensive covers the entire mitochondrial genome with detection of heteroplasmy down to 15.0 % and tests for nuclear genes related to mitochondrial diseases. Mitochondrial diseases are genetic conditions that occur when mitochondria fail to produce enough energy for the cell. Genetic mutations related to mitochondria cause symptoms mainly in organs, that consume large amounts of energy. These organs include the eye, kidney, pancreas, blood, inner ear, colon, skeletal muscle, heart, and brain.

No. of genes: 451
TAT: 25 days
Coverage: ≥99.00% ≥20x
Details:
NGS including CNV analysis

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Common syndromes and disorders covered
  • Chronic progressive external ophthalmoplegia
  • Kearns-Sayre syndrome
  • Leigh’s syndrome and maternally inherited Leigh’s syndrome
  • Mitochondrial disorders
  • Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
  • Myoclonus epilepsy with ragged red fibers
  • Myogastrointestinal encephalomyopathy
  • NARP
  • Neonatal mitochondrial hepatopathies
  • Pearson syndrome

CentoMito® Genome

CentoMito® Genome includes mitochondrial genes. Nuclear mitochondrial genes are not included.

No. of genes: 37
TAT: 25 days
Coverage: ≥97.00% ≥200x
Details:
NGS including CNV analysis

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Common syndromes and disorders covered
  • Chronic progressive external ophthalmoplegia
  • Kearns-Sayre syndrome
  • Leber hereditary optic neuropathy
  • Leigh-like syndrome
  • Leigh syndrome
  • Mitochondrial disorders
  • NARP

Diabetes and obesity panel

Our diabetes and obesity panel is recommended for patients with abnormalities in glucose metabolism, such as hyperinsulinemic hypoglicemia, diabetes neonatal, MODY, diabetes in adults, and familial hypercholesterolemia as well as for patients displaying insulin resistance, from mild to the severe spectrum (Donohue syndrome), and for patients with familial hyperinsulinism. Prader-Willi syndrome can be detected with our diabetes and obesity panel, however, other disorders caused by imprinting errors or uniparental disomy such as 6q24-related transient neonatal diabetes mellitus and Beckwith-Wiedemann syndrome are not included in this panel. Includes MLPA for genomic region 15q11.

No. of genes: 265
TAT: 25 days
Coverage: ≥99.00% ≥20x
Details:
NGS including CNV analysis

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COMMON SYNDROMES AND DISORDERS COVERED
  • Bardet-Biedl syndrome
  • Congenital glycosylation disease
  • Congenital hyperinsulinism
  • Congenital hypothyroidism
  • Diabetes insipidus
  • Growth hormone deficiency
  • Familial hypercholesterolemia
  • Hypoglycemia
  • Maturity onset diabetes of the young
  • Neonatal diabetes
  • Obesity

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CentoPortal® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

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