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
How Transcriptomics Revolutionizes Rare Disease Diagnostics
With a complete clinical picture via multiomic data, the process and precision of treating rare diseases is being redefined. Unlocking deeper understanding of human biological processes at the […]
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 […]
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 […]
A Multiomic Approach to Diagnosing Patients and Accelerating Treatments
An approach which integrates genetic and biochemical testing as first-line diagnostic tool for patients with inherited metabolic disorders.
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 […]
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