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
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 […]
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 […]
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 […]
A Race Against the Clock – Diagnosing Genetic Conditions in Newborns and Children
Up to one third of all babies and children admitted to the intensive care unit (ICU) have a genetic disease. For many of them early identification can make a difference for their immediate and later […]
Functional Characterisation of Alpha-Galactosidase
In order to predict the metabolic consequence of a given mutation, we combined in vitro enzyme activity with in vivo biomarker data. Furthermore, we used the pharmacological chaperone (PC) […]
Diagnostic Difficulties in Krabbe Disease: A Report of Two Cases and Review of Literature
Globoid cell leukodystrophy (GLD, also known as Krabbe disease), whose pathophysiology is still not completely elucidated, is an inherited, metabolic, and neurodegenerative disease, caused by the […]
A Founder Mutation Causing a Severe Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Bukharian Jews
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. A novel homozygous MTHFR c.474A>T (p.G158G) mutation was detected in two unrelated children of Jewish […]
