Genetic Testing – How it Works

To choose the most suitable therapy and support for you – this is what genetic testing is all about.

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Genetic Testing at CENTOGENE

CENTOGENE offers genetic testing of more than 6,500 genes, specifically designed to confirm or exclude a diagnosis of almost any known genetic disorder. An accurate and rapid genetic diagnosis can prevent a long diagnostic odyssey of several years involving many unnecessary tests.

Over the last few years, we have developed hundreds of new genetic tests and have analyzed thousands of patient samples from all over the world. This medical expertise enables us to provide reliable result interpretations for you and your family. We offer you the most advanced in genetic testing technologies. Our renowned medical experts and scientific advisory board ensure that your genetic test results are comprehensively analyzed and translated into a clinically useful report.

Do I need genetic testing?

Genetic testing should be considered when

  • you have a family history of a genetic condition
  • you might have an increased risk of developing a genetic condition
  • you develop signs or symptoms of a genetic condition
  • you might pass on the genetic condition to your children
  • you are pregnant and have reason to believe that your baby is at risk of having a disease-causing mutation

Do you ...

… have a family member with a genetic condition and would like to know the risk of passing on the condition to your children?

… or a family member have a suspicion of a genetic condition and need confirmation of the diagnosis?

… have a family history of a genetic condition and are at risk to develop the condition in the future?

How do I get tested?

Pretest genetic counseling session with your doctor/geneticist/genetic counselor

Doctor determines if genetic testing is appropriate for you or your family member based on clinical symptoms and medical history

Doctor identifies the most appropriate genetic test for you or your family member

Doctor obtains the necessary sample (blood/saliva)

Doctor ships your blood sample to laboratory

Sample arrives at the laboratory. What happens in the laboratory?

What happens in the laboratory?

Sample arrives at the laboratory

DNA is extracted from the sample

Requested genetic test is performed under the highest quality standards

Genetic data is analyzed by world-renowned experts

Comprehensive and easy-to-understand genetic test report is created

Report is shared privately and securely with your doctor

Costs and free-of-charge testing program

Most insurance providers cover genetic testing services but each situation is unique. If a patient is uninsured or unable to cover the cost of the testing, CENTOGENE can consider the patient for cost-free genetic and/or biochemical testing on a research basis, through our free-of-charge testing program.

If you are a self-payer, please find more information about self-payer billing here.

Understanding your results

A Positive Result

A disease-causing change was identified in the gene/region of interest.

Depending on the purpose of the test, a positive result can:

  • Confirm your or your family member’s diagnosis
  • Identify that you or your family member is at increased risk of developing the condition in the future
  • Indicate that you are a carrier of a particular genetic condition
  • Indicate that other family members should be tested and understand their risks

A Negative Result

A disease-causing change was not detected in the gene/region of interest.

This might indicate that you or your family member:

  • Are not affected by a particular disorder
  • Are not carriers of a specific genetic condition
  • Do not have an increased risk of developing a certain disease

Further testing may be required to confirm a negative result. A single test cannot always detect all possible genetic changes that cause a particular genetic condition. Please discuss with your doctor as each individual case is different.

Unclear Result

A change was detected in the gene/region of interest, but currently there is insufficient information in the medical literature to know if this is a disease-causing change or if this is a normal variation in the population.

Such changes are called variants of unknown significance, or VUS.

An uninformative result cannot:

  • Confirm or rule out a specific diagnosis
  • Indicate whether a person has an increased risk of developing a genetic condition

In some cases, testing other affected and unaffected family members can help clarify this type of result and should be discussed in detail with your doctor.

Consult your doctor

The information obtained from genetic testing can have a profound impact on your life. Prior to any genetic testing, we strongly recommend that you seek genetic counseling to understand more about which testing options might be beneficial for you and your family members. Genetic counseling is also recommended to help you understand your genetic test results and their implications for other family members.

At CENTOGENE, we only accept genetic tests ordered by a doctor on your behalf. As genetic testing and test results are complex, we want to ensure that you have access to full support to help you make informed decisions about genetic testing and your future healthcare.

  • What to ask your doctor

    We would like to support you with the following information to give you the possibility to start a valuable discussion with your doctor about genetic testing and treatment progress screening. Read this before you talk to your doctor.

    Download question sheet