Extensive Expansion of Our Genetic Early Detection Portfolio

June 26, 2024

We are now offering additional genetic preventive tests for tumor, kidney, and metabolic diseases, as well as a predictive analysis for dementia and Parkinson’s disease. Thus, CeGaT’s preventive and predictive analysis options have been comprehensively expanded.

Genetic risk factors play an important role in many common diseases in our society, such as tumors or cardiovascular diseases. In preventive genetic diagnostics, we examine genes for variants that can trigger a disease. Our Prevention Panel only contains medically and scientifically recognized genes that carry a risk of disease that can be reduced through early detection or adequate prevention. As part of the update, we have reviewed, updated, and expanded the gene lists of the Prevention Panel. New additions to the panel are:

Prevention of eye diseases

The eye diseases module (PRV06) has been expanded to include additional treatable diseases so that alongside the predisposition to glaucoma, other eye diseases, such as certain forms of retinitis pigmentosa, can also be detected.

Prevention of breast and prostate cancer

With the tumor disease module (PRV01), we help to determine the potential risk of tumors. For breast and prostate cancer, two of the most common tumor diseases, we will offer a separate determination of the genetic risk (PRV10 & PRV11). With this targeted analysis, we give those seeking advice the opportunity to find out whether there is an increased risk of developing breast or prostate cancer. With this information, appropriate preventive measures can be taken.

Prevention of metabolic diseases in adulthood

Metabolic diseases usually occur in childhood, but some forms can also manifest later and remain undetected for years due to unspecific symptoms. The selected diseases are known to occur in adulthood and treatment options are available. With the module for metabolic diseases in adulthood (PRV12), we determine whether there is an increased risk of such a disease in order to make an early diagnosis and enable appropriate treatment.

Prevention of kidney disease

In the kidney disease module (PRV13), we are investigating genes that are associated with a hereditary, increased risk of kidney disease. The analysis is intended to help detect polycystic kidney disease at an early stage in order to prevent consequential damage to the kidneys and, if necessary, to adjust existing medication.

Prevention according to ACMG

Our ACMG module (PRV14) examines genes that have been listed by the American College of Medical Genetics and Genomics (ACMG)1 and for which there is relevance for action. The detection of a pathogenic change in one of these genes can lead to the early detection of a potential health risk and the prevention or mitigation of the disease through the application of established measures. The focus here is on tumors and cardiovascular diseases.

Predictive risk analysis for Parkinson’s and dementia

In addition to updating our Prevention Panel, we now also offer predictive analysis in the areas of dementia and Parkinson’s disease. Although knowledge of genetic risk cannot prevent these diseases, it does enable early diagnosis and monitoring. People affected benefit from an early start to treatment, the opportunity to take part in clinical trials, and the chance to adapt their lifestyle and life choices accordingly.

Further information on our preventive and predictive analyses.

We would be happy to help you choose a diagnostic strategy, whether you are seeking advice or a doctor’s help. Call us at +49 (0) 7071 565 44 55 or email us at diagnostic-support@cegat.com.


  1. Miller, D. T. et al. ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine: official journal of the American College of Medical Genetics 25, 100866; 10.1016/j.pediatrneurol.2021.03.005 (2023).