Test for Unknown Genetic Disorders
CENTOGENE is committed to ‘un-rare’ rare diseases by using their worldwide knowledge in the rare disease market, understanding the epidemiology, analyzing clinical heterogeneity of the more than 3800 diseases and developing innovative biomarkers. Based on this knowledge they are bringing rationality to treatment decisions and, thereby, accelerate the development of new orphan drugs.
Whole Genome Sequencing
Whole genome sequencing identifies almost all changes in a patient’s DNA by sequencing both the entire coding and non-coding regions of the genome. CentoGenome® – our whole genome sequencing service – is the most complete solution to diagnose genetically complex and undiagnosed cases with the highest level of certainty.
CentoGenome®is the most complete solution to diagnose genetically complex and undiagnosed cases with the highest level of certainty.
Whole Exome Sequencing
The utility of whole exome sequencing as a diagnostic tool has been hobbled by the fact that exome capture techniques developed by research-focused solution providers have failed to address the problem of incomplete gene sequence coverage. This limits standard exome sequencing to screening for only a fraction of the exonic regions that contain protein coding information. The resultis low diagnostic yields and ethical questions associated with the decision to recommend exome sequencing to patients.