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Reporting severe and early onset disorder genes for further diagnostic options

  1. Severe and early onset disorder genes reported in WES and prenatal

CENTOGENE’s 'Tabular List' variant section

At CENTOGENE, we are committed to providing cutting-edge diagnostic services – shortening patients’ diagnostic odyssey and accelerating life-saving treatments.

To ensure that we are offering the most comprehensive medical solutions, we have recently added a ‘Tabular List’ variant section to medical reports. This section incorporates a list of pathogenic/likely pathogenic genetic variants from a selection of highly penetrant genes which are known to be linked to early onset severe diseases identified in the proband when using Next Generation Sequencing (NGS). The list of genes covered currently includes more than 2,000 genes, which are frequently reviewed and updated. The Tabular List makes potentially relevant, but often unreachable additional information accessible to physicians/genetic counsellors – allowing them to take actionable steps to potentially help prevent morbidity and mortality of the patient and/or their family. This section is available free of charge for CentoXome®, CentoGenome®, CentoDx®, and numerous NGS panels. Reporting of these genetic variants is based on the pathogenic/likely pathogenic classification in CentoMD®, what we believe to be the world’s largest data base repository of rare diseases.


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