1. Metabolic Disorders

Metabolic Disorders

Diagnosis through genetic testing can strongly help uncover the cause of persistent, often debilitating, undiagnosed symptoms in patients suffering with suspected genetic metabolic disorders. With knowledge of variants in over 1,250 metabolic disease genes, our rapid testing and extensive experience of metabolic disease can help you diagnose and manage your patients’ metabolic disorder quickly and correctly. Ultimately this can provide new insights into treatment options and predict the likelihood of passing the inherited condition on to offspring or the presence of it elsewhere in the family.


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:843
TAT:15 days / 10 days (fast option)
Coverage:≥99.5% ≥20x
Details:Only next-generation sequencing. CNV analysis not available.

Common syndromes and disorders covered

Alagille syndrome
Arginase deficiency
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
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


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, metal 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:590
TAT:25 days
Coverage:≥99.5% ≥20x
Details:CNV analysis included

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
Neurodegeneration with Brain Iron Accumulation
Non-ketotic hyperglycinemia
Refsum disease
Urea cycle disorder


CentoMetabolic® 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, and includes enzyme-activity testing where applicable as well as a proprietary selection of biomarkers that is continually 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

Common syndromes and disorders covered

Most common metabolic disorders

Available downloads for CentoMetabolic®

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 (≥99.5% ≥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:404
TAT:25 days
Coverage:≥99.5% ≥20x (nuclear mitochondrial genes)
≥97% ≥200x
Details:CNV analysis included

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
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% ≥200x
Details:≥5% mitochondrial heteroplasmy
can be confidently detected

Common syndromes and disorders covered

Chronic progressive external ophthalmoplegia
Kearns-Sayre syndrome
Leber hereditary optic neuropathy
Leigh-like syndrome
Leigh syndrome
Mitochondrial 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 wtih this panel.

No. of genes:196
TAT:25 days
Coverage:≥99.5% ≥20x

CNV analysis included
MLPA: 15q11


Bardet-Biedl syndrome
Congenital glycosylation disease
Congenital hyperinsulinism
Familial hypercholesterolemia
Maturity onset diabetes of the young
Neonatal diabetes

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