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 enablesasingle 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.
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
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.
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.
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.
*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.
MOx 2.0
CentoXome MOx 2.0 Diagnosed Wiskott-Aldrich Syndrome
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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.
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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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 […]
Genetik & Amyloidose: Polyneuropathie und Kardiomyopathie
Sehen Sie sich jetzt unser Webinar über die angeborene TTR Amyloidose an. Hierbei handelt es sich um eine autosomal-dominante Erbkrankheit, die durch Mutationen im TTR – Gen verursacht und häufig […]
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 […]
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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 […]
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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 […]
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, […]
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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
¿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 […]
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 […]
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.
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 […]
Looking for a one-stop-solution for your laboratory? Join this webinar to learn more about our CentoCloud® for diagnostic NGS panels, clinical bioinformatics & medical interpretation in the […]
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 […]
Mendelian Disease Gene Identification and Diagnostics Using Targeted Next Generation Sequencing
During the last few months we have observed for the first time since the introduction of the first massive parallel sequencers in 2007, that the cost of sequencing a human genome has not changed […]
Validation of a Semiconductor Next-Generation Sequencing Assay for the Clinical Genetic Screening of CFTR
Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more […]
Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Diagnostics of Breast and/or Ovarian Cancer
We explored a more efficient genetic screening strategy based on next-generation sequencing of the BRCA1 and BRCA2 genes in 210 hereditary breast and/or ovarian cancer patients.
