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: 855
TAT: 15 days / 10 days (fast option)
Coverage: ≥99.0% ≥20x
Details: Only next-generation sequencing. CNV analysis not available.

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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
  • 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

Available Downloads

CENTOGENE CentoICU Brochure English PDF

CentoICU Brochure

Because life begins today

CentoIEM

Inborn Errors of Metabolism largely impact human diseases. CentoIEM includes a large array of different disorders and includes genes responsible for diverse phenotypes, including intermediary metabolism, such as aminoacidopathies, organic acidurias, urea cycle disorders, sugar intolerance, mental disorders, and porphyrias, among others. 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: ≥99.0% ≥20x
Details: CNV analysis included
mtDNA analysis included

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COMMON SYNDROMES AND DISORDERS COVERED
  • Aicardi-Goutieres syndrome
  • Autoimmune lymphoproliferative syndrome 
  • Ceroid lipofuscinosis
  • Congenital glycosylation disease
  • Fatty acid oxidation disorder
  • Familial hypercholesterolemia
  • 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
  • Porphyria
  • Refsum disease
  • Urea cycle disorder

Available Downloads

CENTOGENE Productsheet Pediatric Neurology English PDF

Pediatric Neurology Panels – Product Sheet

A targeted approach for testing neurological disorders

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: ≥99.5% ≥20x
Details: CNV analysis included
Complementary biochemical testing
by proprietary biomarkers and enzyme-activity
assays if applicable

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Common syndromes and disorders covered
  • Most common metabolic disorders

Available Downloads

CENTOGENE CentoMetabolic Product Sheet English PDF

CentoMetabolic MOx – Product Sheet

More answers today. More options tomorrow.

CentoMito Comprehensive

CentoMito Comprehensive covers the entire mitochondrial genome (≥97% ≥ 200x coverage) with detection of heteroplasmy down to 5% along with nuclear genes related to mitochondrial diseases (≥99.0% ≥20x coverage). Mitochondrial diseases are genetic conditions that occur when mitochondria fails to produce enough energy for the cell. Genetic mutations related to mitochondria cause symptoms mainly in the organs, where energetic consumption is high. These organs include the eye, kidney, pancreas, blood, inner ear, colon, skeletal muscle, heart, and brain.

No. of genes: 450
TAT: 25 days
Coverage: ≥99.5% ≥20x (nuclear mitochondrial genes)
Details: CNV analysis included
mtDNA analysis included

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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

Available Downloads

CENTOGENE Productsheet Pediatric Neurology English PDF

Pediatric Neurology Panels – Product Sheet

A targeted approach for testing neurological disorders

CentoMito Genome

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

No. of genes: 37
TAT: 25 days
Coverage: ≥97% ≥200x
Details: ≥5% mitochondrial heteroplasmy
can be confidently detected

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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

Available Downloads

CENTOGENE Productsheet Pediatric Neurology English PDF

Pediatric Neurology Panels – Product Sheet

A targeted approach for testing neurological disorders

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. Disorders caused by imprinting errors or uniparental disomy, such as 6q24-related transient neonatal diabetes mellitus and Beckwith Wiedemann syndrome, are not detected with this panel.

No. of genes: 265
TAT: 25 days
Coverage: ≥99.0% ≥20x
Details: CNV analysis included MLPA: 15q11

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

Visit Our Online Ordering Portal

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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