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  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®

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

More than 100 associated conditions that become present in the newborn or early childhood

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:25 days
Coverage:≥99.5% ≥20x
Details: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) along with 365 nuclear genes related to mitochondrial diseases (≥99.5% ≥20x coverage). It includes a sequence analysis of 365 nuclear encoded mitochondrial proteins and the complete mitochondrial genome detection of heteroplasmy down to 5%. Large MT gene deletions are also covered by this panel. 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
Details:mitoGenome, and large deletions in mtDNA

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, also known as lepreuchanism), and for patients with familial hyperinsulinism. Disorders such as transient neonatal diabetes mellitus 6q24 related or Beckwith Wiedemann syndrome are not detectable by this method. Specific genetic disorders are caused by imprinting errors and uniparental disomy, and they can not be detected by sequence analysis.

No. of genes:155
TAT:25 days
Coverage:≥99.5% ≥20x
Details:MLPA: 15q11

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