Benefits of Genetic Testing
Genetic testing can provide clarity and a firm diagnosis, guide therapy selection and monitoring, and allow disease risk profiling.
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 quicky and reliaby test our DNA; sequencing and deletion/duplication analysis are the most common. Biochemical/multiomic testing can also often aid in diagnosing disease earlier and can also enable continuous therapy monitoring, especially in lysosomal storage disorders.
Why Choose CENTOGENE?
Distinctive product offering centered around high-quality genetic testing
Strong presence in and access to countries with a high prevalence of rare diseases
CentoCard provides easy logistics for central testing
Rare disease-centric Bio/Databank generates best-in-class medical insights
Deep expertise in rare, metabolic, and neurodegenerative diseases, as well as multiomics enables better diagnostics
Transparency and Quality of Medical Reports
We strive to build a partnership of trust. Our test data is validated and interpreted by our experienced medical experts. Our medical reports contain comprehensive information about any detected variants.
Reliable Diagnosis Through Dynamic Variant Classification
We are committed to helping rare disease patients throughout their lives. We systematically re-evaluate past variant classifications and inform patients in the event of a reclassification.
CentoCard®, Life-Saving Diagnostics Made Simple
Our dried blood spot (DBS) filter cards to collect and ship patient samples offer the simplest way to collect patient blood samples. Genetic testing is made available anywhere in the world.
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.
For some genetic diseases, like hereditary cancer, advanced monitoring and early intervention may save a patient’s life.
The results of genetic testing may be useful for future family planning.
- Hotspot testing – only tests for a few most common mutations
- Single gene sequencing – sequencing of the entire gene
- Deletion/duplication testing – longer stretches of missing or extra genetic material
- Repeat expansion analysis (fragment length analysis) – looks at repeats of nucleotide motifs
- Next generation sequencing (NGS) panels – sequencing of groups of genes at once
- Whole exome sequencing (WES) – sequencing of all our genes (20,000) at once
- Whole genome sequencing (WGS) – sequencing of our complete genome including genes and the non- coding sequence (20,000) at once
The accuracy of genetic test results is paramount. Major life decisions are often based on genetic test results. Genetic testing should only be performed by accredited, high quality labs that regularly take part in external quality assurance schemes. Ideal patient care involves pre-and post-test genetic counseling to explain the range of options and possible outcomes.