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.
Case Studies
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
You not only helped on this occasion, but you and your colleagues help every single day, on every occasion.
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.
Related Articles & Webinars
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.
Enzymes
Oligosaccharidoses and Sphingolipidoses
-
Wolman disease
Acid lipase -
Pompe disease
Alpha-glucosidase -
Fucosidosis
Alpha-fucosidase - Fabry disease
Alpha-galactosidase - Alpha-mannosidosis
Alpha-mannosidase - 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 A (MPS IV A)
N-acetylgalactosamine-6-sulfate-sulfatase - 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)
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