MOx 2.0

Transcriptomics The Superior Multiomic Offering

Utilizing RNA Sequencing is a paradigm shift in real-world patient diagnostics – revolutionizing precision medicine and delivering life-changing answers to rare and neurodegenerative disease patients.

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What Is Transcriptomics?

Unlock a deeper understanding of human biological processes at the molecular level with transcriptomics – a revolutionary advancement in the realm of multiomics. This paradigm shift in real-world patient diagnostics provides the most holistic view of disease mechanism. By sequencing RNA molecules present in a tissue (e.g., blood), transcriptomics enables the analysis of splicing variants, fostering a new era of insights. Thus, we can achieve more precise diagnoses leading to personalized treatments, tailored to each patient's unique molecular profile. Explore the power of transcriptomics in navigating through the complexities of rare diseases.

Transcriptomics captures a snapshot of the genes' expression to expand the understanding of disease physiology and improve patient profiling and stratification, leading to improved medical intervention.

We understand that genomics alone is not enough. Leveraging transcriptomics, the CENTOGENE Biodatabank, and CentoCard®, MOx 2.0 enables us to translate variants of unknown significance into a precise diagnosis and revolutionize precision medicine for rare and neurodegenerative disease patients.

Prof. Peter Bauer, M.D., Chief Medical and Genomic Officer

Prof. Peter Bauer, Chief Medical & Genomic Officer at CENTOGENE

Why Transcriptomics Matters

Going Beyond Genetics

Genomics has been groundbreaking, but transcriptomics takes us to the next dimension. It allows us to explore the expression of multiple genes across different conditions, providing crucial insights into disease complexities.

Empowering Personalized Treatments

Transcriptomics enables a holistic disease view, leading to more accurate diagnoses. By analyzing splicing events, we can achieve more precise medical interventions, revolutionizing patient care.

Revolutionizing Healthcare

Transcriptomics is a cutting-edge field that explores the intricate world of RNA molecules. It helps us understand the molecular architecture by providing insights into the dynamic relationships between the transcriptome and the phenotype.

For who is Transcriptomics?

Transcriptomics  is relevant for a wide range of individuals, especially those with rare diseases characterized by complex and unclear clinical features. It enables us to explore unique molecular insights beyond genetics, facilitating improved diagnoses and a deeper understanding of these disease characteristics.

What are CENTOGENE's single-step solutions for Transcriptomics?

MOx 2.0 is available for CentoGenome & CentoXome. For identified variants with a phenotypical correlation, RNA analysis evaluates the impact of variants with splicing impact. Additionally, clinical variants are confirmed with biochemical analyisis.

What are the sample requirements for RNA sequencing?

RNA sequencing typically requires high-quality RNA extracted from patient samples, such as using our unique dried blood spot (DBS) technology CentoCard®. CENTOGENE offers state-of-the-art laboratories and expertise to handle diverse sample types for optimal RNA sequencing outcomes.

Can Transcriptomics be used to monitor disease progression and treatment response?

Yes, Transcriptomics can track changes in gene expression over time, offering valuable insights into disease progression and the effectiveness of treatments. This longitudinal approach aids in monitoring patient outcomes and refining therapeutic strategies.1

How does Transcriptomics help in clarifying the impact of variants of unknown significance (VUS)?

Transcriptomics can provide functional evidence for VUS by assessing their impact on gene expression and splicing events. We focus on RNA analysis of variants that affect splicing and correlate with clinical information.This critical information helps clinicians and geneticists in determining the pathogenicity of these variants and making more informed clinical decisions.2

How does Transcriptomics complement genomic sequencing in rare disease diagnosis?

Transcriptomics goes beyond genomics, providing additional information about gene expression patterns and splicing events. By analyzing the transcriptome, we can unravel complex disease mechanisms and identify critical genetic variants that may be missed by genomic sequencing alone.3

How Does Transcriptomics Translate Uncertainty Into Precise Diagnoses?

In this compelling case study, transcriptomics confirmed the impact of a previous defined variant of uncertain significance (VUS) and enabled a precise diagnosis for a patient with a rare neurodegenerative disease.

By harnessing transcriptomic technology, comprehensive insights into RNA molecules and specific splicing events were obtained. This in-depth assessment confirmed the variant's significant impact, providing crucial insights for accurate diagnosis and potential treatment strategies.

NEWDiagnosing Niemann-Pick Type C1 

Niemann-Pick type C1 (NPC1) is a rare neurodegenerative disorder caused by mutations in the NPC1 gene, leading to cholesterol and lipid accumulation within cells. Symptoms include neurological deterioration and organ enlargement. Early diagnosis and multiomic testing are crucial for personalized treatment strategies.

Through comibing our Whole Exome Sequencing (WES) solution – CentoXome, with MOx 2.0, we established a fast and definitive diagnosis by integrating WES with splicing analysis at the RNA level as well as biochemical analytics.

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NEWA Groundbreaking Diagnosis: Wiskott-Aldrich Syndrome

A success story using CentoXome MOx 2.0, turning unknown evidence into precise diagnosis thanks to RNA analysis. An effective diagnosis with multiomic testing is crucial for expedited treatment options, leading to an enhanced quality of life for patients.

Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder of the immune system that primarily affects boys and characterized by the triad of eczema, thrombocytopenia, and severe and often recurrent infections.

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How CentoCard® Simplifies Logistics for Transcriptomic Analysis

RNA sequencing often requires high-quality patient RNA samples, creating logistical complexities. To overcome this, we've developed state-of-the-art filter card technology for extracting high-quality DNA from dried blood spots, simplifying the process to make it as easy as mailing a letter. Our filter card solution facilitates global genetic, enzymatic, and biomarker testing. Leveraging our unique DBS technology with CentoCard, we've streamlined sample collection and shipping, ensuring accessible genetic testing for patients worldwide.

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What Is Included in CENTOGENE's Single-Step Multiomic Portfolio?

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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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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 1.0

Webinar on demand

How Transcriptomics Revolutionizes Rare Disease Diagnostics

November 15, 2023 | English

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1. Casamassimi, A., et al.  (2017). Transcriptome Profiling in Human Diseases: New Advances and Perspectives. International Journal of Molecular Sciences, 18(8), 1652.

2. Castel, S. E., et al. (2019). A comprehensive study of pathogenic and benign mitochondrial DNA variants in 3,115 human exomes. Nature Communications, 11, 2918.

3. Braz, C. L., et al. (2021). RNA Sequencing in the Clinical Diagnosis of Mismatch Repair Deficiency: A Potentially Lifesaving Test in Children. Frontiers in Pediatrics, 9, 643717.