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

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MOx 2.0

CentoXome MOx 2.0 Diagnosed Niemann-Pick Disease Type C1

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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

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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


NEW CentoXome®: convirtiendo nuestra experiencia en su ventaja

Los oradores del webinar, la Dra. Pilar Guatibonza, Clinical Genetic Liaison CENTOGENE, y el Dr. Carlos Manrique, Gerente Regional de Ventas en México CENTOGENE, discuten el poder del NEW CentoXome […]


Cómo los biomarcadores transforman los diagnósticos genéticos

A lo largo del seminario web, Pilar Guatibonza, MD, y Carlos Manrique, MD, brindan una descripción general de cómo los biomarcadores multiómicos desempeñan un papel esencial en el diagnóstico […]


How Biomarkers Transform Genetic Diagnostics

Throughout the webinar, Dr. Tobias Böttcher provided an overview of how multiomic biomarkers play an essential role in early diagnosis, prediction, and therapeutic monitoring of Niemann-Pick Disease […]


Salud Reproductiva y Diagnóstico Genético Prenatal

A lo largo del CentoTalk, Pilar Gutibonza, MD, proporciona una descripción detallada de las opciones de detección prenatal de CENTOGENE y cómo las pruebas prenatales juegan un papel esencial.


Cómo los biomarcadores transforman el Diagnóstico Genético

A lo largo de nuestro CentoTalk hablamos sobre la enfermedad de Fabry y la aplicación práctica de los biomarcadores que está ayudando a cambiar el juego de los diagnósticos genéticos.


How Biomarkers Transform Genetic Diagnostics: A Success Story With Fabry Disease

Throughout the on demand CentoTalk, Dr. Tobias Boettcher provides an overview of how biomarkers play an essential role in early diagnosis, prediction, and therapeutic monitoring for Fabry disease […]


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.


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 […]


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 […]


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 […]


Enfermedad de Hunter: Cuando sospecharla, como diagnosticarla y el estudio clínico de CENTOGENE: Bio-Hunter

¿Estas interesado en aprender más sobre la enfermedad de Hunter- un desorden de depósito lisosomal causante de una serie de alteraciones en órganos como el corazón, sistema nervioso central y óseo?


Fibrosis Quística: presente y futuro

¿Estas interesado en aprender más sobre el diagnóstico de fibrosis quística, una enfermedad genética común, con altas tasas de morbilidad y mortalidad? Puedes ver nuestro Webinar acerca de fibrosis […]


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.


Niemann-Pick Type C Disease Often Overlooked: Fast & Efficient Screening Programs

Discover how CENTOGENE’s fast and efficient screening program for NP-C can enable diagnosis, prediction and therapy monitoring for your patients.


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 […]

14 Nov, 2017

Scientific Publications

Working Towards a Better Understanding of Parkinson’s Disease

Detailed characterization of large patient cohorts in a uniform manner is critical for gaining therapeutically relevant insights into rare diseases. CENTOGENE is a major stakeholder in the LIPAD […]


Biomarker-Based Monitoring of Treatment Efficacy

The value of most metabolic biomarkers is restricted to diagnostic settings. A few biomarkers, however, can also be used to monitor treatment efficacy. A recent study published in the Journal of […]

18 Jul, 2021

Multiomic Characterization of Rare Disease Patients

Applying a multiomic approach to rare genetic diseases has great potential to synergistically generate truly novel insights. CENTOGENE is therefore complementing its rich phenomic and genomic […]

12 Jun, 2021

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