MOx 2.0
Beyond Diagnostics.
Explore the paradigm shift with CENTOGENE’s integrated multiomic solution – now including RNA sequencing!
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
Experience the Superior Multiomic Offering With Transcriptomics
Join the precision medicine revolution today to deliver life-changing answers.
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.
What Is Included in CENTOGENE's Single-Step Multiomic Portfolio?
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.
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.
Additional Multiomic Solutions
Explore our genetics reflex to biochemical MOx 1.0 portfolio
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.
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.
Additional Information & Resources
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
The Power of Whole Genome Sequencing
Establishing a rapid and reliable diagnosis for complex cases can be difficult, even for the most skilled physicians. But thanks to the latest technologies and scientific insights into rare and […]
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 […]
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 […]
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.
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 […]
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 […]
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 […]
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 […]
CentoLCV – El nuevo estándar para detectar desequilibrios cromosómicos
Mira el webinar sobre CentoLCV™, nuestro nuevo análisis integral de variación de número de copias (CNV), y aprender por qué es el nuevo estándar para establecer diagnósticos moleculares más precisos […]
CentoLCV – The New Standard for Detecting Chromosomal Imbalances
Watch Dr. Peter Bauer, MD, Chief Genomic Officer at CENTOGENE, as he discusses CentoLCV, our comprehensive Large Copy number Variation (CNV) analysis, and why it is the new standard for establishing […]
Why it’s time to consider WGS as first-line genetic testing
Last year CENTOGENE announced its new sequencing facility for rare hereditary disorders, which uses Illumina’s HiSeq X® sequencer. Now, some months after our journey started, our CSO Prof. Peter […]
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 […]
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, […]
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
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 […]
A Journey to the Future – Whole Genome Sequencing for the Diagnosis of Heterogeneous Genetic Disorders
Last year CENTOGENE announced its new sequencing facility for rare hereditary disorders, which uses Illumina’s HiSeq X® sequencer. Some months after our journey started, our CSO Prof. Peter Bauer […]
Oncogenetics in the Clinical Practice
In this webinar you will learn the last insights in oncogenetics testing and how CENTOGENE gene panels can support you to assess the risk of a patient to develop an inherited cancer.
Novel Insights into a Rare Disorder
A profound understanding of rare genetic disorders relies on the description of large numbers of patients. Based on its unique positioning in the rare disease field, CENTOGENE can significantly […]
Novel Genetic Cause for Neurodevelopmental Defects
Many proteins are crucial for proper brain development. By showing that certain neurodevelopmental defects are associated with mutations in TMX2, this study adds an enzyme of the redox signaling […]
Disturbed lipid metabolism causes congenital disease
Lipid metabolism is crucially involved in embryonic development, and recent research uncovered yet another link. Genetic screening revealed that inactivation of the enzyme sphingomyealinase-3 results […]
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