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CNV Analysis - We've Got It Covered

With CNV analysis now included in all our genetic tests, you can rest assured that you are providing the most precise diagnosis

We now include CNV analysis in all of our genetic testing products, so that you can rest assured that your patients are receiving the most detailed diagnosis! By implementing advanced technology, we help you take a closer look into your patients’ genome to truly capture what is really going on.


Pathogenic and likely pathogenic variants are reported following ACMG classification guidelines. Variants of uncertain significance (VUS) are not reported in any of the following cases: the described phenotype(s) is explained by detected pathogenic or likely pathogenic variant(s); the detected VUS are not related to the described phenotype(s) of the patient or family members; in the lack of sufficient clinical information; and in our oncogenetic panels.


NGS-based copy number variant (CNV) analysis has a sensitivity of above 80  % for all homozygous deletions. Heterozygous CNVs spanning less than three exons cannot reliably be detected, and are therefore excluded from routine analysis, and will only be inspected and reported upon medical or technical indication.


Your trusted partner for excellent, comprehensive medical interpretation and reporting validated by our experienced medical experts.


Our extensive rare disease data repository with over 400,000 analyzed case and more than 12 million unique variants supports our world-class medical interpretation.

Extended Phenotyping

Structuring your patient’s symptoms into Human Phenotype Ontology (HPO) terms ensures the best quality of clinical information for data interpretation.

Variant Reclassification

CENTOGENE has a highly robust and ongoing variant reclassification program based on new genetic evidence. If re-classification affects the nature of the genetic diagnosis of the patient, physicians will be notified free of charge.


Your solution for smarter diagnostics: Manage your genetic testing online using CentoPortal® supported by simplified logistics through CentoCard®.


Our quick, cost-effective, and hassle-free solution for shipment of clinical blood samples for genetic testing. Collected samples are unaffected by shipping time and temperature, and a single card enables genetic and metabolic testing.


A user-friendly and fully secure online service designed to assist in ordering tests, transferring patient data, administering patients‘ samples, and accessing your diagnostic reports 24/7.  Please go to:

Data Safety and Research Use

With transparent and easy-to-understand consent forms, your patients can make educated decisions without worrying about data protection. By consenting to the research and storage option, you and your patients will advance research, the understanding of rare diseases, and the quality of future diagnoses and therapies.

World-Class Expertise

CENTOGENE’s reputation is built on an international team of genetic and bioinformatics experts, the latest lab technology, continuously improved processes and protocols, and unique data analysis software.

Get in touch with our Partner Support

Our consultation service is available in several languages.

+49 (0) 381 - 80113 416

Mon. – Fri. 7 a.m.– 8 p.m. CEST • Sat. 8 a.m. – 12 p.m. CEST

For our US Partners:

+1 (617) 580-2102

Mon. – Fri. 9 a.m. – 5:30 p.m. EST