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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®
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: | 851 |
| TAT: | 15 days / 10 days (fast option) |
| Coverage: | ≥99.5% ≥20x |
| Details: | CNV not available |
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
Hemophilia A
Hemophilia B
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
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, metal disorders, and porphyrias, among others. Cytoplasmic and mitochondrial energetic processes and metabolism affecting cellular organelles, such as lysosomal, peroxisomal, glycosilation, and cholesterol syntesis are also included.
| No. of genes: | 491 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
Common syndromes and disorders covered
Aicardi-Goutieres syndrome
Autoimmune lymphoproliferative syndrome
Ceroid lipofuscinosis
Congenital glycosylation disease
Fatty acid oxidation disorder
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
Refsum disease
Urea cycle disorder
CentoMetabolic®
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: | 166 |
| TAT: | 15 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | CNV included Complementary biochemical testing by proprietary biomarkers and enzyme-activity assays if applicable |
Common syndromes and disorders covered
Most common metabolic disorders
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: | 402 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x (nuclear mitochondrial genes) ≥97% ≥200x (CentoMito® Genome) |
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% ≥200x |
| Details: | CNV included; ≥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
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. 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: | 155 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | MLPA: 15q11 |