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.


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 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 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 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

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

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.

Oligosaccharidoses and Sphingolipidoses

  • Wolman disease
    Acid lipase
  • Pompe disease
  • Fucosidosis
  • Fabry disease
  • Schindler/Kanzaki disease
  • Gaucher disease
  • Tay-Sachs disease
  • Beta-mannosidosis
  • Sandhoff disease

Neuronal Ceroid Lipofuscinosis

  • Santavuori-Haltia disease
    Palmitoyl-protein- thioesterase

  • Jansky-Bielschowsky disease


  • Hurler syndrome (MPS I)
  • Hunter syndrome (MPS II)
  • Sanfilippo syndrome B (MPS III B)
  • Morquio syndrome B (MPS IV B)
  • Maroteaux-Lamy syndrome (MPS VI)
    Arylsulfatase B
  • Sly syndrome (MPS VII)


  • Gaucher disease
    Glucosylsphingosine (lyso-Gb1)*
  • Fabry disease
    Lyso-ceramide trihexoside  (lyso-Gb3))
  • Niemann-Pick disease type A/B/C
  • 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

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MOx 1.0

CentoMetabolic MOx 1.0 Diagnosed Gaucher Disease

Read case study

Additional Information & Resources


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


MOx – Advancing Rare Disease Patient Care With Multiomic Solutions

Watch the on-demand webinar now to gain insights into our multiomics revolution – a multidimensional approach looking at each patient from different angles to combine deep knowledge and insights for […]


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 […]


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.


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.


Webinar de CentoGenome - ‘Una mirada al poder de la Secuenciación del Genoma Completo’

Acompáñenos en nuestro CentoWebinar ‘Una mirada al poder de la secuenciación del genoma completo.’ A lo largo del webinar, nuestro presentador el Dra. Aida M. Bertoli-Avella, MD le proporcionará una […]

8 Dec, 2020

CentoGenome Webinar - ‘A Look Into the Power of Whole Genome Sequencing’

Throughout the webinar, Prof. Peter Bauer will provide you with an overview of Whole Genome Sequencing (WGS) and share insights from our latest study – unlocking the clinical utility of WGS.

7 Dec, 2020

CentoWebinar – 'Um olhar sobre o poder do sequenciamento completo do genoma'

Ao longo do webinar, nosso convidado Dr. Salmo Raskin, fornecerá uma visão geral do sequenciamento completo do genom (WGS) e compartilhará as percepções de nosso estudo mais recente - revelando […]

1 Dec, 2020

Angioedema hereditario (AEH): oculto a simple vista

Mira nuestro webinar sobre 'Angioedema Hereditario (HAE): oculto a simple vista’, donde se proporciona una visión general de este raro trastorno genético y analizarán métodos de diagnóstico, como […]

27 May, 2020

Hereditary Angioedema (HAE): Hidden in Plain Sight

Watch our webinar, where Dr. Aida M. Bertoli-Avella, Head of Research Data Analysis, Dr. Volha Skrahina, Vice Director Clinical Studies, and Dr. Selen Zülbahar, Clinical Project Manager & Team Leader […]

25 May, 2020

Niemann-Pick tipo C: Dos genes – muchos cuadros clínicos – un biomarcador unificador

Mira nuestro webinar sobre Niemann-Pick tipo C, un raro trastorno genético progresivo caracterizado por la incapacidad del cuerpo para transportar el colesterol y otras sustancias grasas (lípidos) […]


Niemann-Pick Type C: Two Genes - Many Clinical Pictures - One Unifying Biomarker

Watch our webinar “Niemann-Pick type C: Two Genes – Many Clinical Pictures – One Unifying Biomarker” hosted by Prof. Peter Bauer. Throughout the webinar, he will provide an overview of this rare […]


Gaucher Disease – Update on diagnosing and therapy monitoring

Knowing Gaucher Disease (GD), the most common lysosomal storage disorder, is crucial when being faced with unspecific abnormalities in many organs like brain, liver, spleen and bones. Right at […]

6 Oct, 2019

Enfermedad de Gaucher – Enfoque en el diagnóstico y seguimiento de la terapia

Conocer la enfermedad de Gaucher (EG), el trastorno de almacenamiento lisosomal más común, es crucial cuando su paciente presenta anormalidades inespecíficas en diversos órganos como cerebro, hígado, […]

16 Sep, 2019

Genome First. Last. Fast: the One Step Approach to Genetic Testing

This webinar will cover the opportunities and challenges with clinical Whole Genome Sequencing (cWGS), value of curated digital data, re-classification and re-analysis and the utility of cWGS

5 Jun, 2019

Is Pancreatitis a Genetic Disease?

Pancreatitis is a common cause of life-threatening abdominal symptoms and pain. If diagnosed, especially in the young, the question as to the etiology arises. Join our guest speaker, Prof. Matthias […]


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.


What You Need to Know about Carrier Screening

Carrier screening is a predictive genetic testing, designed for future parents. Would you like to learn more and understand it better? Watch our recorded webinar about CentoScreen®: "What you need to […]


Clinical Exome Sequencing Targets Genes Associated with All Known Clinical Phenotypes

Watch our recorded webinar, “Clinical Exome Sequencing targets genes associated with all known clinical phenotypes to achieve high diagnostic accuracy” and find out how clinical utility meets patient […]

26 Jan, 2018

Solving the Diagnostic Riddle – Diagnosing Heterogeneous Genetic Disorders with Whole Exome Sequencing

Most of the disease-causing mutations that science has been able to identify so far are located within the exons. Whereas most genetic tests focus on a single gene or on a set number of predetermined […]

27 Feb, 2017

Scientific Publications

Ultra-Rare Immune Disorder Uncovered

Homeostasis of the immune system is key for human health. Recently, CENTOGENE carried out an analysis of clinical and genetic data from the CENTOGENE Biodatabank, which enabled the identification of […]

25 Aug, 2022

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 […]

9 Jun, 2022

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 […]

6 Jun, 2022

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