Diagnostics for Everyone
Translate genetics insights into data-driven, life-changing answers to accelerate precision medicine
Establishing Medical Answers
A timely and accurate diagnosis can provide immense relief to patients and families affected by rare and neurodegenerative diseases, especially after a prolonged period of uncertainty. Unfortunately, these patients currently face some of the highest unmet medical needs, often facing a diagnostic odyssey spanning years and multiple misdiagnoses before receiving an accurate answer. The difficulty in diagnosing many of these diseases stems from their nonspecific clinical presentation or extreme rarity. However, genetic and multiomic testing offer a crucial solution to accelerate the identification of disease-causing factors. By leveraging these advanced technologies, healthcare professionals can improve the chances of an accurate diagnosis and provide patients with tailored treatment options. Opting for genetic and multiomic testing can significantly reduce the diagnostic odyssey, accelerate treatment options, and offer life-changing answers for rare and neurodegenerative disease patients.
Our goal is to rapidly diagnose rare and neurodegenerative diseases at the earliest possible moment.
>350 million
people are suffering from rare diseases
>50%
of rare diseases affect children
30%
will not see their 5th birthday
What Is Genetic Testing?
Genetic testing is a type of medical test that identifies changes in the DNA sequence, which we can pass on to our children. These changes in our DNA, called “pathogenic variants,” can manifest in disease. Genetic tests can detect such variants and confirm a disease diagnosis.
DNA is the genetic material in our cells that serves as the blueprint for our unique features. It carries the instructions that enable our body to perform various functions. Several different methods exist to quickly and reliably test our DNA; sequencing and deletion/duplication analysis are the most common. Biochemical/multiomic testing can often also aid in diagnosing disease earlier and can enable continuous therapy monitoring, especially in lysosomal storage disorders (LSD). For further patient resources, visit: Do I Need Genetic Testing?
Going Beyond Genetics With Multiomic Solutions
Just as every disease is different, so is every patient. By taking a multidimensional approach, you are able to look at each patient from different angles to combine deep knowledge and insights for a holistic view. A multiomic approach addresses the various “omics” – Phenomics, Genomics, Transcriptomics, Epigenomics, Proteomics, and Metabolomics. This ultimately gives us a more complete picture of the underlying biology and what is causing the symptoms of any particular rare or neurodegenerative disease. This enables us to diagnose diseases quickly and with the highest accuracy possible – saving resources and sparing patients pivotal years during which a disease can rapidly progress. A quick definitive diagnosis can direct physicians to the treatments of today and the precision medicine of tomorrow.
At CENTOGENE, we deploy this multiomic approach via MOx – our portfolio of multiomic solutions. Our advanced multiomic tests are one of the world’s first commercially available multiomic analyses for rare and neurodegenerative diseases – testing for a range of disease-causing variants. Powered by integrated biochemical testing, MOx delivers the most powerful diagnosis in a single test.
MOx 2.0
Beyond Diagnostics.
Explore the paradigm shift with CENTOGENE’s integrated multiomic solution – now including RNA sequencing!
Benefits of Diagnostic Analysis
Accurate Diagnosis
For a lot of disorders, genetic testing is the only way to make an accurate diagnosis and help avoid additional unnecessary clinical investigations.
Most Suitable Therapy and Support
Genetic testing can guide the clinician in choosing the most suitable therapy and support for the patient.
Patients and Families
A definite diagnosis can be a great relief to patients and families, especially if they have been searching for the answer for long time.
Patient’s Life
For some genetic diseases, like hereditary cancer, advanced monitoring and early intervention may save a patient’s life.
Family Planning
The results of genetic testing may be useful for future family planning.
Types of Diagnostic Analysis
Diagnostic Testing
is offered to patients to identify genetic mutations that may be causing symptoms and to confirm or rule out a diagnosis.
Reproductive & Prenatal Testing
for women planning a pregnancy, or already pregnant, who have a known risk for having a child with a genetic disorder.
Oncology Testing
is offered to patients to identify genetic mutations that may be causing symptoms and to confirm or rule out a diagnosis.
How it Works
CentoPortal
Our easy-to-use platform to request a genetic, biochemical or biomarker analysis, to keep track of the samples' status, and to manage the diagnostic reports.
CentoCard
Our unique dried blood spot (DBS) technology to simplify the collection and shipping of patients' samples. Thanks to CentoCard, diagnostic testing is available around the world.
Medical Reports
Our comprehensive medical reports contain extensive expert interpretation of clinical data and include differential diagnostic approaches as well as detailed interpretation of key findings.
Frequently Asked Questions
The complete genomic information within a sample or individual is known as the whole genome. The exome is a region of the genome – making up approximately 2%. The exome is responsible for protein-coding regions, and although it is a relatively small part of the genome, it contains the majority (~85%) of known disease-causing changes.
A genome represents a patient’s complete set of DNA. By examining the genome, you can capture one of the most extensive ranges of genetic variants in a single test – solving up to 30% of negative cases that just look at the exome.
Inherited metabolic disorders (IMDs) are a group of rare conditions caused by genetic defects that disrupt the cellular metabolism.
A growing number of IMDs are treatable if diagnosed early, but can be quickly fatal without prompt identification. With a multiomic approach that incorporates biochemical testing, you can accelerate the critical journey from symptoms to diagnosis by avoiding stepwise testing – saving time, resources, and pivotal years amid often rapid IMD progression.
Biochemical testing examines the enzymes in the body to detect if there are any abnormalities. These abnormalities may be reflected by functioning improperly or being absent or unstable. Biochemical testing is especially used to detect altered enzyme activity to detect birth defects and Inherited Metabolic Disorders (IMDs). With the metabolism being responsible for converting food into energy and waste, enzymes play a key role.
With biochemical testing, you can accelerate the path to a precise diagnosis by avoiding stepwise testing.
Additional Information & Resources
The Power of Whole Genome Sequencing
Establishing a rapid and reliable diagnosis for complex cases can be difficult, even for the most skilled physicians. But thanks to the latest technologies and scientific insights into rare and […]
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 […]
Webinar de CentoGenome - ‘Una mirada al poder de la Secuenciación del Genoma Completo’
Acompáñenos en nuestro CentoWebinar ‘Una mirada al poder de la secuenciación del genoma completo.’ A lo largo del webinar, nuestro presentador el Dra. Aida M. Bertoli-Avella, MD le proporcionará una […]
Retrospective Diagnosing of Rare Disease Patients
Despite diagnostic exome/genome sequencing, patients remain without a diagnosis when the relevant gene-disease association is not yet known at the time of analysis. CENTOGENE therefore re-evaluates […]
In-Depth Characterization of a Novel Disease
Establishing a novel gene-disease link has immediate diagnostic implications, while therapeutic considerations require functional insights beyond genotype and phenotype. CENTOGENE researchers […]
Contributions to WGS Guidelines for Rare Disease Diagnostics
Proper genetic diagnostics relies on up-to-date guidelines. These have recently been revised for Whole Genome Sequencing (WGS) by a panel of European experts. CENTOGENE’s Chief Genomic and Medical […]
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