We Test for the Following Disease Categories
Why do we believe in genetic testing?
We are dedicated to provide the complete spectrum of genetic, biochemical and biomarker analyses. Our commitment is to convert diagnostic data rapidly into the best solution for each individual patient. With the highest quality in medical interpretation, maintained by CentoMD®, the world’s largest mutation database for rare diseases, and global data sources, we continuously develop new and innovative products in molecular diagnostics.
Diagnostic services
Whole exome sequencing provides information on all genes and identifies changes in DNA by focusing on the most informative regions of the genome, for a quick and cost-effective diagnostic solution.
CentoDx® focuses on the coding part of all genes associated with known clinical phenotypes, thereby comprising the complete clinical exome. It´s our largest NGS panel available, covering over 3,200 diseases.
Whole genome sequencing is ideal for finding novel mutations and identifying atypical presentations of a disease – especially for patients that exhibit a heterogeneous or atypical phenotype.
Biomarkers play an essential role in the diagnosis, prediction and therapy monitoring of several metabolic diseases, especially when patients have accessible treatment options.
NGS Panel Genomic avoids the additional costs of step wise analysis from deletion/duplication, follow up exome or genome sequencing, mitochondrial analysis, or analysis of new genes associated with the phenotype when new information surfaces.
CentoNIPT® offers genetic, non-invasive prenatal testing (NIPT) to screen for the most common fetal chromosomal abnormalities. Our test combines the latest next generation sequencing technology with expert medical reporting.
Additional services
Prenatal diagnosis allows for the sensitive identification of disease-causing mutations in at-risk families before birth and is offered for all diseases with congenital or early onset. Prenatal testing is given the highest priority at CENTOGENE.
Comparative genomic hybridization is a molecular cytogenetic method for analyzing copy number variations. CGH array allows us to quickly and efficiently determine the relative abundance of nucleic acid sequences in the target sample.
Most people can be carriers of a disease causing change without knowing it. If both partners are carriers, they have a 25% risk of having an affected child with a recessive genetic disease and a 50% that the child will be a carrier like the parents.