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CentoMetabolic MOx

More Answers Today. More Options Tomorrow.

Combining genetic and biochemical testing to deliver a quick and highly accurate multiomic diagnosis of rare metabolic disorders.

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Metabolic Testing

Inherited metabolic disorders (IMDs) are life-long conditions and patients have a wide range of symptoms and needs. They are debilitating, with phenotypic, biochemical and genetic heterogeneity, frequently leading to prolonged diagnostic odysseys.

With a multiomic approach, we can help you and your patients accelerate the critical journey from symptoms to diagnosis by avoiding stepwise testing – saving time, resources, and pivotal years during which IMDs can rapidly progress.

CENTOGENE’s multiomic panel — CentoMetabolic MOx — has been designed to test for a wide range of IMDs — integrating genetic and biochemical testing in one single solution, for the fast and accurate diagnoses.

When genetic variants relevant to a patient are then detected via CentoMetabolic MOx, we automatically complement the analysis with biomarkers and/or enzyme testing if applicable, and include the results in the medical report. CentoMetabolic provides you with the most valuable information for diagnosis decisions, prognosis and therapeutic approaches, laying the roadmap to personalized treatment options.

 

Why Choose CentoMetabolic MOX?

Multiomic panel integrating genetic and biochemical testing in a single solution, for fast and accurate diagnosis of a wide range of inherited metabolic disorders

Biochemical testing to support variant classification, leading to higher diagnostic yields

Best-in-class medical reports powered by the world’s largest rare disease-centric Bio/Databank from the leader and trusted partner in rare disease diagnostics

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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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Key Features and Performance

Multiomic Approach 206 genes and over 20 enzymes and biomarkers associated with more than 180 IMDs
Coverage
  • Mean depth ~200x
  • ≥ 99.5% targeted regions covered at ≥ 20x
  • For each gene, all clinicaly relevants variants described in HGMD® and our rare disease-centric Bio/Databank are covered, including deep intronic and regulatory variants
Improved Interpretation Extra insights supported by our Bio/Databank, which contains curated unique variant data and omics data from a wide range of ethnicities from more than 120 countries, are used to confirm results and validate pathogenicity of the variants found
Advanced and sensitive detection of sequence variants and deletions/duplications Highly sensitive and specific detection of SNVs, InDels and CNVs
  • Sensitivity
     
    SNVs and InDels (≤55 bp) >99.5%
    CNVs (≥3 exons)* >95.0%
  • Specificity of >99.9 % is guaranteed for all reported variants**
Material CentoCard® (preferred) and blood
TAT 15 business days

SNVs: single nucleotide variants; InDels: small insertions/deletions; CNVs: copy number variations
*CNV detection software has a sensitivity >95.0% for all homozygous/hemizygous deletions, as well as heterozygous deletions/duplications and homozygous/hemizygous duplications spanning at least three consecutive exons
**Variants with low quality and/or unclear zygosity are confirmed by orthogonal methods (i.e., SNVs and InDels by Sanger sequencing; CNVs by Multiplex ligation-dependent probe amplification, MPLA; quantitative polymerase chain reaction, qPCR; or chromosomal microarray, CMA)

Who Should Consider CentoMetabolic MOx?

Physicians providing diagnoses and treatments for patients matching any of the following criteria:

  • Suspected metabolic disorder
  • Overlapping symptoms and floppy babies
  • Infants with lethargy, abdominal pain, vomiting, jaundice, metabolic acidosis
  • Abnormal newborn screening results
  • Developmental delay
  • Infants admitted to a neonatal intensive care unit (NICU), especially due to epilepsy of unclear origin and disturbed consciousness
  • Symptoms related to neurological conditions of unknown etiology

What Genes and Disorders Are Targeted?

CentoMetabolic targets close to 200 genes. The content and design of the panel is based on our continuously enhanced medical expertise and knowledge of rare metabolic disorders, including the latest medical and in-house findings.

The table below shows the distribution of genes and targeted metabolic disorders based on 18 different disease categories:

Types of metabolic disorders covered

Genes*

Congenital disorders of glycosylation and other disorders of protein modification 2
Defects in cholesterol and lipoprotein metabolism 2
Defects in hormone biogenesis or function 7
Disorder of phosphate, calcium and vitamin D metabolism 3
Disorders in the metabolism of purines, pyrimidines and nucleotides 6
Disorders in the metabolism of trace elements and metals 6
Disorders in the metabolism of vitamins and (non-protein) cofactors 10
Disorders of amino acid and peptide metabolism 33
Disorders of carbohydrate metabolism 35
Disorders of energy metabolism 6
Disorders of fatty acid and ketone body metabolism 3
Disorders of lipid and lipoprotein metabolism 8
Disorders of neurotransmitter metabolism 1
Disorders of porphyrin and heme metabolism 8
Disorders of the metabolism of sterols 16
Lysosomal disorders 48
Peroxisomal disorders 16
Porphyria and bilirubinemia 1

*Due to overlapping phenotypes, particular genes are listed in more than one category as they are associated with more than one disorder

Going Beyond Genetics – What Biomarkers and Enzymatic assays are included?

CentoMetabolic MOx panel includes biomarkers and enzymatic assays for over 20 metabolic disorders. Biomarkers serve as measurable indicators of pathological processes. They are typically directly linked to genetic variants in specific genes and can predict, diagnose, monitor, and assess the severity of a disease. Measuring the cellular activity of an enzyme can also be used as a tool for the diagnosis and monitoring of a disease, as well as treatment efficacy.

Our multiomic- and big data-based approaches allow us to continuously discover new highly specific biomarkers and develop new enzymatic assays. Any new biomarker and biochemical assay clinicaly relevant for metabolic disorders will be included in this panel, and represents an opportunity to advance our understanding of metabolic disorders well as develop better tailored therapies for patients.

Resources

Downloads

Product Sheet

CENTOGENE CentoMetabolic MOx Product Sheet English PDF

CentoMetabolic MOx – Product Sheet

More answers today. More options tomorrow.

Scientific Publications

An unusual Gaucher family

A family in which all individuals over two generations suffer from an unexplained phenotype was recently referred to CENTOGENE for diagnostic workup. Comprehensive biochemical and genomic screening […]

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Extended application of an old medication

While ambroxol has been in medical use for respiratory diseases for over 40 years, its recently understood mode of action suggests a wider applicability. For Gaucher disease (GD), a metabolic […]

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Informing therapeutic decisions in a rare disorder

Therapy for Gaucher disease, a rare metabolic disorder, has been available for almost 30 years, but whether all patients should receive the costly treatment has remained controversial. Upon […]

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Enzymes and Biomarkers Included in MOx Products

Enzyme assays and biomarkers included in CentoMetabolic MOx products and corresponding diseases

Enzymes
Oligosaccharidoses and Sphingolipidoses

  • Wolman disease
    Acid lipase

  • Pompe disease
    Alpha-glucosidase

  • Fucosidosis
    Alpha-fucosidase

  • Fabry disease
    Alpha-galactosidase
  • Alpha-mannosidosis
    Alpha-mannosidase
  • Schindler/Kanzaki disease
    Alpha-N-acetylgalactosaminidase
  • Gaucher disease
    Beta-glucocerebrosidase
  • Tay-Sachs disease
    Beta-hexosaminidase
  • Beta-mannosidosis
    Beta-mannosidase
  • Sandhoff disease
    Total-hexosaminidase

Enzymes
Neuronal Ceroid Lipofuscinosis

  • Santavuori-Haltia disease
    Palmitoyl-protein- thioesterase

  • Jansky-Bielschowsky disease
    Tripeptidyl-peptidase

Enzymes
Mucopolysaccharidosis

  • Hurler syndrome (MPS I)
    Alpha-L-iduronidase
  • Hunter syndrome (MPS II)
    Iduronate-2-sulfatase
  • Sanfilippo syndrome B (MPS III B)
    Alpha-N-acetylglucosaminidase
  • Morquio syndrome A (MPS IV A)
    N-acetylgalactosamine-6-sulfate-sulfatase
  • Morquio syndrome B (MPS IV B)
    Beta-galactosidase
  • Maroteaux-Lamy syndrome (MPS VI)
    Arylsulfatase B
  • Sly syndrome (MPS VII)
    Beta-glucuronidase

Biomarkers

  • Gaucher disease
    Glucosylsphingosine (lyso-Gb1)*
  • Fabry disease
    Lyso-ceramide trihexoside  (lyso-Gb3))
  • Niemann-Pick disease type A/B/C
    Lyso-SM-509
  • Aromatic L-amino acid decarboxylase (AADC) deficiency
    3-O-methyldopa (3-OMD)

*A method using Lyso-Gb1 is covered by US Patent No.10,859,580, other pending US applications, and pending applications and patents in other jurisdictions

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Related Webinars

Biomarkers for Lysosomal Storage Disorders

Interested in the latest innovations in metabolic disease diagnostics and assessing the effects of therapy? Do you want to learn more about biochemical genetic testing at CENTOGENE? Join this webinar […]

Webinar
14 Nov, 2017
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