CENTOGENE’s ‘Carriership Findings’

To ensure the delivery of the most comprehensive medical solutions, we offer Carriership Findings free-of-charge in our CentoGenome and CentoXome reports, upon request and with consent, for both index and non-index individuals.

In adherence to professional guidelines^1–5, we report pathogenic and likely pathogenic sequence variants in known genes associated with severe and early-onset autosomal recessive and X-linked disorders regardless of their incidence.

Our carriership list encompasses over 2,000 genes linked to severe recessive and early-onset Mendelian diseases. It is curated with precision to mirror the latest scientific and medical knowledge, incorporating genes from the ACMG (American College of Medical Genetics and Genomics) carrier screening guidelines⁵, and leveraging insights from the CENTOGENE Biodatabank. This list undergoes frequent review and updates by our expert medical team.

The complete Gene List for Carriership Findings can be accessed in Downloads & Resources. We exclusively report sequence variants classified as pathogenic and likely pathogenic in the CENTOGENE Biodatabank.

Although these variants may not significantly impact the health of individuals, they possess clinical relevance for reproductive planning, contributing valuable information to genetic counseling decisions. In accordance with current professional guidelines,^1,2,3 we do not recommend providing carrier information to minors (under the age of 18 years). However, we can report it when requested and if the consent form is signed, as these findings have the potential to impact genetic counseling and reproductive decisions for the family.⁴