MOx 2.0

Beyond Diagnostics.

Explore the paradigm shift with CENTOGENE’s integrated multiomic solution – now including RNA sequencing!

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What Is Multiomics?

CENTOGENE's multiomic approach integrates different data sets (omics) in a single test. In leveraging the most holistic insights, multiomics acts as a unique and highly effective tool for the early diagnosis of rare and neurodenegerative diseases. Empowering physicians to provide timely interventions and personalized treatments, a multiomic approach ultimately improves patient outcomes and alleviates the burdens of prolonged diagnostic odysseys.

Why Choose CENTOGENE?

Our CENTOGENE Biodatabank has >800,000 patients from >120 countries, >70% of whom are of non-European descent

Advanced Artificial Intelligence and Bioinformatics pipelines enable in-depth clinical results and insights

CentoCard enables a single sample to be used for genetic testing, RNA sequencing, & biochemical analysis

Why Multiomics Matters?

Understanding Diseases Holistically

Integrated genomic, biochemical, and transcriptomic analysis facilitates the decision on the pathogenicity of clinical variants, leading to a higher diagnostic yield
 

Shortening Patients' Diagnostic Journeys

Multiomics enables physicians to avoid stepwise testing by integrating DNA and RNA sequencing with biochemical testing, accelerating diagnoses 

Revolutionizing Precision Medicine

A multidimensional approach provides a complete clinical picture – enabling a deeper understanding of disease complexities and leading to personalized treatments

Which Types of Omics Are Included in CENTOGENE's Multiomic Offering?

Phenomics

Phenomics examines the complete set of observable symptoms and characteristics to understand their relationship with genetics and the environment. Using Human Phenotype Ontology (HPO) terms, we are able to classify disease indicators, susceptibility to diseases, and response to treatments.

Genomics

Genomics is the foundation that examines the genome to reveal inherited traits, disease risks, and genetic factors that result in disease. By using DNA sequencing, we are ale to cover the majority of disease causing variants.

NEW Transcriptomics

Transcriptomics captures a snapshot of the genes that are actively expressed in a given tissue (e.g. blood) at a particular time. Using RNA sequencing, we are able to identify the impact of splice variants.

Metabolomics

Metabolomics examines a huge set of metabolites to capture a snapshot of cellular metabolism and providing information about the metabolic pathways. Using biochemical testing, we are able to measure and identify biomarkers of diseases.

Experience the Superior Multiomic Offering With Transcriptomics

Join the precision medicine revolution today to deliver life-changing answers.

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RNA Analysis Now Included in MOx Portfolio

Transcriptomics focuses on the RNA, the genetic molecule that acts as a copy or transcript of the DNA. By analyzing the transcriptome, we are able to see the mirrored instructions that have been encoded in the DNA, such as when and where a gene is functioning.

Advanced RNA sequencing technology allows us to qualify the impact of potential splicing variants as changes in the composition of genetic information in our medical interpretation. For this purpose, variants in expressed genes that could impact splicing are analyzed and functionally evaluated in the RNA data, powered by AI. Our medical experts use this information in combination with the clinical picture of the patient to provide an advanced and more precise variant classification. Our RNA sequencing can elucidate undiagnosed genetic diseases and clarify the impact of variants of uncertain significance (VUS).

Specimen Requirements

For an overview of which material is required for a multiomic analysis, please visit How To Order.

Webinar on demand

How Transcriptomics Revolutionizes Rare Disease Diagnostics

November 15, 2023 | English

Watch on demand

What Is Included in CENTOGENE's Single-Step Multiomic Portfolio?

CENTOGENE People standing under umbrella in the rain

Transcriptomics
CentoGenome MOx 2.0

Our Whole Genome Sequencing covers deep intronic and splicing regions and includes comprehensive genomic analysis (e.g., SV, repeat expansion), capturing >7,000 rare diseases, including >1,400 Inherited Metabolic Disorders.

CentoGenome MOx 2.0 includes RNA analysis of clinically relevant variants that affect splicing. For identified variants, additional enzyme activity testing and metabolic biomarker measurements are performed by an automated reflex step within the capabilities of our biochemical portfolio.

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CENTOGENE Little Girl Hugged by Mother

Transcriptomics
CentoXome MOx 2.0

Our Whole Exome Sequencing turns the evaluation of exonic regions as well as splicing regions (+/- 10 bp) into a clear understanding of disease-causing variants in >7,000 rare diseases, including >1,400 Inherited Metabolic Disorders.

CentoXome MOx 2.0 includes RNA analysis of clinically relevant variants that affect splicing. For identified variants, additional enzyme activity testing and metabolic biomarker measurements are performed by an automated reflex step within the capabilities of our biochemical portfolio.

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Additional Multiomic Solutions

Explore our genetics reflex to biochemical MOx 1.0 portfolio

CentoGenome MOx 1.0
CentoXome MOx 1.0
CentoMetabolic MOx

Enzymes and Biomarkers Included in MOx Portfolio

In the multiomic testing environment, biochemical testing evaluates the impact of potentially clinically relevant variants (VUS, LP, P) in genes for the following analytes. Biomarkers serve as measurable indicators of pathological processes. This critical information helps clinicians and geneticists in determining the pathogenicity of these variants and making more informed clinical decisions.

Enzymes
Oligosaccharidoses and Sphingolipidoses

  • Wolman disease
    Acid lipase
  • Pompe disease
    Alpha-glucosidase
  • Fucosidosis
    Alpha-fucosidase
  • Fabry disease
    Alpha-galactosidase
  • 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 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

Multiomics is a game-changer for physicians, providing a powerful and multidimensional perspective of each patient. By integrating diverse omics data, including genomics, transcriptomics, and biochemical testing, we gain deeper insights into rare and neurodegenerative diseases. It uncovers hidden insights that single-data approaches often overlook, empowering us to make more informed and precise diagnostic decisions.

Dr. Jorge Pinto Basto, M.D., Vice President Medical Genetics

Real-World Case Studies Reveal the Impact of Our Multiomic Approach

A genetic test alone may not be able to provide the information needed for a final diagnosis. With a comprehensive view of each patient's biology, we uncover valuable insights for accurate diagnosis and tailored treatment strategies. Discover the transformative potential of our multiomic solution and revolutionize patient care.

MOx 2.0

CentoXome MOx 2.0 Diagnosed Wiskott-Aldrich Syndrome

Read case study

MOx 2.0

CentoXome MOx 2.0 Diagnosed Niemann-Pick Disease Type C1

Read case study
 

MOx 1.0

CentoGenome MOx 1.0 Diagnosed Tay-Sachs Disease

Read case study
 

MOx 1.0

CentoMetabolic MOx 1.0 Diagnosed Gaucher Disease

Read case study
 

Additional Information & Resources

Downloads

MOx 2.0 – Multiomic Portfolio Brochure

MOx 2.0 – Multiomic Portfolio Brochure

Beyond Diagnostics. Explore CENTOGENE's Single-Step Multiomic Portfolio.

Scientific Poster– Beyond Genomics

Aida M. Bertoli Avella et al., 2023
Using RNA-seq in filtercards to unlock the clinical relevance of non coding variation in splicing

Webinars

Transforming the Way You Analyze Genetic Data: An Inside Look at CentoCloud's New Innovation

Watch our on-demand webinar to enable rapid bioinformatic analysis and interpretation of Next Generation Sequencing (NGS) data.

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CentoCloud – Discover a New World of Medical Diagnostics

Join us on November 2 as we open the digital doors to a new world of medical diagnostics. Throughout the webinar, our speakers, Ana Popic, Head of CENTOGENE Belgrade, and Martin Shumanov, Regional […]

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Rewrite the Future of Rare Diseases With Multiomics

Our speakers, Maximilian Schmid M.D., Chief Commercial Officer – Diagnostics, and Prof. Peter Bauer M.D., Chief Genomic Officer, will highlight the power of multiomics in establishing a complete […]

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NEW CentoXome® – Turning Our Expertise Into Your Advantage

Dr. Aida Bertoli-Avella and Dr. Jorge Pinto-Pasto provide you with an exclusive look into our enhanced Whole Exome Sequencing (WES) solution – NEW CentoXome.

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NEW CentoXome – Turning Years Into Days

Throughout the CentoTalk, Maximilian Schmid, M.D., and Jorge Pinto Basto, M.D., will provide a detailed overview of CENTOGENE’s new and enhanced Whole Exome Sequencing (WES) solution.

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Multiomics and Biomarkers in Rare Diseases Supporting Development and Commercialization of Orphan Drugs

Watch our webinar to learn about innovative methods to tackle the challenges of orphan drugs in early stage development, clinical trial enrollment, and market development.

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Biomarcadores: acelerando diagnósticos y guiando tratamientos

Mira nuestro webinar sobre biomarcadores, donde discutiremos un enfoque multiómico, que combina información sobre la genómica, la proteómica y la metabolómica, para acelerar la interpretación de los […]

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Biomarkers: Accelerating Diagnoses and Guiding Treatments

Watch our webinar, where Prof. Peter Bauer, MD discusses a multiomic approach to accelerate the interpretation of data and the development of life-changing biomarkers for rare diseases. Throughout […]

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Variant Reclassification: When, Why, How

Discover how CENTOGENE’s variant reclassification enables us to provide you with the latest and highest quality data for the most up-to-date diagnosis.

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Scientific Publications

Unmet Needs in Human Genomic Variant Interpretation

The quality and the precision of a final diagnosis do not consist solely of correct variant classification and clinical interpretation. Diagnosis begins at the preanalytical level, and all subsequent […]

Article
25 Oct, 2017
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Clinical Exome Sequencing – Results from 2819 Samples Reflecting 1000 Families

A study was conducted using whole exome sequencing (WES) to identify underlying pathogenic variants, or likely pathogenic variants, in 1,000 diagnostic cases from 54 different countries. Patients […]

Article
15 Nov, 2016
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Global Genotype–Phenotype Database for Rare Diseases

"The ability to discover genetic variants in a patient runs far ahead of the ability to interpret them. Databases with accurate descriptions of the causal relationship between the variants and the […]

Article
31 Oct, 2016
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