With an average of seven years to pinpoint a diagnosis, with less than 250 FDA approved treatments, patients with one of the over 7,000 different rare diseases are currently facing some of the highest unmet medical needs.
Multiomics Represents the Subsets of Omics – Genomics, Transcriptomics, Proteomics, Metabolomics and Phenomics
With a complete clinical picture via multiomic data, the process and precision of treating rare diseases is being redefined. We are able to gain multilayer insights to provide the most accurate diagnosis, develop better disease models, and thus deliver more precise medicine.
A multiomic approach constitutes a unique and highly effective tool for the early diagnosis of rare, metabolic, and neurodegenerative diseases
Biochemical testing allows for orthogonal confirmation of disease – accelerating the path to a diagnosis by avoiding stepwise testing
Integrated genomic and biochemical testing facilitates the decision on the pathogenicity of clinical variants leading to higher diagnostic yield
Multiomics provides a complete clinical picture – enabling the assessment of disease severity and thus accelerating personalized treatments
A genetic test alone may not be able to provide the information needed for a final diagnosis.
Leveraging a Multiomic Approach to Establish a Genetic Diagnosis with CentoMetabolic MOx
Applying a Multiomic Approach to Diagnose and Treat a Young Rare Disease Patient
Explore the Next Generation of Whole Exome Sequencing
Explore the Next Generation of Whole Genome Sequencing
You not only helped on this occasion, but you and your colleagues help every single day, on every occasion.
Metabolic Testing MOx
~200 genes associated with >180 Inherited Metabolic Disorders
~20,000 genes, with focus on the exome
>7,000 rare diseases, including >1,400 Inherited Metabolic Disorders
A diagnosis that covers the depth and breadth of a patient’s biology – allowing you to truly understand the cause of a disease – is fundamental.
In continuously bringing advanced multiomic diagnostic products to market, we are building unparalleled insights and the know-how to find therapeutic approaches faster and positively impact patients' lives.
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 […]
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 […]
An unusual Gaucher family
A family in which all individuals over two generations suffer from an unexplained phenotype was recently referred to CENTOGENE for diagnostic workup. Comprehensive biochemical and genomic screening […]
Enzymes and Biomarkers Included in MOx Products
Enzyme assays and biomarkers included in CentoGenome MOx, CentoXome MOx and CentoMetabolic MOx products and corresponding diseases.
Oligosaccharidoses and Sphingolipidoses
- Fabry disease
- Schindler/Kanzaki disease
- Gaucher disease
- Tay-Sachs disease
- Sandhoff disease
Neuronal Ceroid Lipofuscinosis
- Jansky-Bielschowsky disease
- Hurler syndrome (MPS I)
- Hunter syndrome (MPS II)
- Sanfilippo syndrome B (MPS III B)
- Morquio syndrome A (MPS IV A)
- Morquio syndrome B (MPS IV B)
- Maroteaux-Lamy syndrome (MPS VI)
- Sly syndrome (MPS VII)
- Gaucher disease
- Fabry disease
Lyso-ceramide trihexoside (lyso-Gb3))
- Niemann-Pick disease type A/B/C
- Aromatic L-amino acid decarboxylase (AADC) deficiency
Only for CentoGenome MOx/CentoXome MOx
- Hereditary angioedema (HAE)
Complement C4-alpha peptide
Complement C1-INH peptide
*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