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 

Explore the Next Generation of Whole Exome Sequencing

Read our CentoXome MOx 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 >1,400 Inherited Metabolic Disorders

Explore CentoXome MOx

CENTOGENE Little Child Looking out of Window With Binoculars

WGS MOx

>20,000 genes, entire genome
>7,000 rare diseases, including >1,400 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 Encyclopedia for Mass Spectrometry Lipidomics

Mass spectrometry (MS) is a state-of-the art technique to identify and quantify lipid species. This study analyzed this tool to pave the way to better research and health outcomes for patients around […]

Loading...

Retrospective Diagnosing of Rare Disease Patients

Despite diagnostic exome/genome sequencing, patients remain without a diagnosis when the relevant gene-disease association is not yet known at the time of analysis. CENTOGENE therefore re-evaluates […]

Article
Jun 09, 2022
Loading...

In-Depth Characterization of a Novel Disease

Establishing a novel gene-disease link has immediate diagnostic implications, while therapeutic considerations require functional insights beyond genotype and phenotype. CENTOGENE researchers […]

Article
Jun 06, 2022
Loading...

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