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CENTOGENE’s ‘Carriership Findings’

At CENTOGENE, we are committed to providing cutting-edge diagnostic services – shortening patients’ diagnostic odyssey, improving disease prognosis, treatment options, and patient health.

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Reporting carriership status for recessive severe and early-onset Mendelian diseases important for family planning

To ensure that we are offering the most comprehensive medical solutions, we offer free-of-charge in our CentoGenome and CentoXome reports an optional Carriership Finding section for index patients starting from 1st of March 2022.

In this section 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. Such variants usually don't appreciably affect a patient's health, however, are clinically relevant for reproductive planning. We only report sequence variants that are classified as pathogenic and likely pathogenic in our Bio/Databank, which we believe to be the world's largest and well-curated database repository of rare diseases.

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 counselling and reproductive decisions for the family.4

The selection of genes associated with severe and early-onset autosomal recessive and X-linked Mendelian disorders were carefully curated to reflect the most up-to-date scientific, medical (e.g., includes genes from the ACMG carrier screening guidelines5) and in-house knowledge (e.g., Bio/Databank). This list incudes more than 2,000 genes and is frequently reviewed and updated by our medical experts.

References

1Borry et al. 2006, PMID: 17026616; 2European Society of Human Genetics 2009, PMID: 19277059; 3COMMITTEE ON BIOETHICS et al. 2013, PMID: 23428972; 4VanNoy et al. 2019, PMID: 30600268; 5Gregg et al. 2021, PMID: 34285390

Downloads & Resources

Gene List for Carriership Findings

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