With an average of seven years to pinpoint a diagnosis, with less than 250 FDA approved treatments, patients with one of the over 7,000 different rare diseases are currently facing some of the highest unmet medical needs.

Multiomics Represents the Subsets of Omics – Genomics, Transcriptomics, Proteomics, Metabolomics and Phenomics

With a complete clinical picture via multiomic data, the process and precision of treating rare diseases is being redefined. We are able to gain multilayer insights to provide the most accurate diagnosis, develop better disease models, and thus deliver more precise medicine.

A multiomic approach constitutes a unique and highly effective tool for the early diagnosis of rare, metabolic, and neurodegenerative diseases

Biochemical testing allows for orthogonal confirmation of disease – accelerating the path to a diagnosis by avoiding stepwise testing​

Integrated genomic and biochemical testing facilitates the decision on the pathogenicity of clinical variants leading to higher diagnostic yield

Multiomics provides a complete clinical picture – enabling the assessment of disease severity and thus accelerating personalized treatments​

Case Studies

A genetic test alone may not be able to provide the information needed for a final diagnosis.

Leveraging a Multiomic Approach to Establish a Genetic Diagnosis with CentoMetabolic MOx

Read our Gaucher Case Study 

Applying a Multiomic Approach to Diagnose and Treat a Young Rare Disease Patient

Read our GLB1  Case Study 

You not only helped on this occasion, but you and your colleagues help every single day, on every occasion.

Dr. Willie Reardon, Ireland

We Have Pioneered a Combination of Different Omics With an Optimized Testing Strategy

CENTOGENE a man carries a boy in his arms

Metabolic Testing MOx

~200 genes associated with >180 Inherited Metabolic Disorders

Explore CentoMetabolic MOx

CENTOGENE Little Girl Hugged by Mother

WES MOx

~20,000 genes, with focus on the exome​
>7,000 rare diseases, including >1500 IMDs

Explore CentoXome MOx

CENTOGENE Little Child Looking out of Window With Binoculars

WGS MOx

>20,000 genes, entire genome
>7,000 rare diseases, including >1,500 Inherited Metabolic Disorders

Explore CentoGenome MOx

A diagnosis that covers the depth and breadth of a patient’s biology – allowing you to truly understand the cause of a disease – is fundamental.

In continuously bringing advanced multiomic diagnostic products to market, we are building unparalleled insights and the know-how to find therapeutic approaches faster and positively impact patients' lives.

Related Articles & Webinars

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 […]

Article
Oct 25, 2019
  • Metabolic Disorders
  • Biomarker
  • Mutation Database
  • Multiomics
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Enzymes and Biomarkers Included in MOx Products

Enzyme assays and biomarkers included in CentoGenome MOx, CentoXome MOx and 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)

Only for CentoGenome MOx/CentoXome MOx

  • Hereditary angioedema (HAE)
    Complement C4-alpha peptide
    Complement C1-INH peptide


*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