Genomic testing for rare and inherited disorders

Placing genetics at the core of medial decisions

Our genomic testing solutions support the investigation of a broad range of rare and inherited disorders. Depending on the clinical indication, testing can identify clinically relevant variants through or genomic imbalances through , helping to support diagnosis and inform patient management.

Whole Exome Sequencing

Comprehensive analysis of the protein-coding regions of approximately 20,000 genes to identify clinically relevant variants associated with rare and inherited disorders. Particularly valuable for complex phenotypes and genetically heterogeneous conditions.

Genome-wide copy number analysis

Genome-wide detection of copy number variations, including deletions and duplications, as well as (partial) aneuploidies, to support the diagnosis of developmental, congenital and syndromic conditions.

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Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

How to order a genetic test

Select the right test for your patients. Contact our team in case you do not have an active contract yet.

Collect the sample. Download and fill in the order and consent form or access our portal (available for sample sent to Germany).

Properly pack the sample and send it to Medicover Genetics.

The sample will be analysed in our accredited laboratories.

An actionable report will be available for you to access safely and securely.

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Our team of experts is here to support you at every stage.

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Why Medicover Genetics

Leader in genetic testing with >25 years of experience in counselling and diagnostics

Comprehensive CE-IVD kit portfolio and seamless Technology Transfer solution for laboratories of any size

End-to-end clinical workflow from sample processing to sequencing analysis and reporting

CAP- and CLIA- and ISO15189 accredited, GMP- and ISO9001 and 13485 certified