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Genetic Testing & How it Works

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

Genetic Testing at CENTOGENE

CENTOGENE’s genetic tests offer patients the most advanced testing technology specifically designed to confirm or exclude a diagnosis of almost any known genetic disorder.

An accurate and rapid genetic diagnosis can prevent an odyssey of countless unnecessary medical tests. Our renowned medical experts and scientific advisory board ensure that your genetic test results are comprehensively analyzed and translated into a report that will help physicians guide medical care.

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

Our Tests

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Infertility Testing

For couples struggling to become pregnant, genetic testing can identify a cause. It can help them make important treatment decisions when planning their families, or consider alternatives

More about Infertility Testing

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Non-Invasive Prenatal Testing

CentoNIPT® is a non-invasive safe and accurate prenatal test that gives information about the health and development of a fetus beginning as early as the 10th week of pregnancy.

More about CentoNIPT®

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Genetic Testing for Newborns

CentoICU™ is a fast and comprehensive genetic test to identify a genetic cause of illness for newborns and children younger than 24 months in intensive care

More about CentoICU™

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Carrier Screening

Carrier screening can determine if a healthy person carries a genetic disease, identify people at risk of developing a genetic disease, or help assess the risk of a couple passing a genetic disease onto their children.

More about CentoScreen®

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Breast Cancer Testing

Providing critical information for affected and non-affected individuals

Confirmation of any genetic pre-disposition to the disease and information to guide those who already have a diagnosis.

Read more about Breast Cancer Testing

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Mitochondrial Testing

The most accurate way to diagnose a mitochondrial disease

CentoMito™ is a genetic test that helps you to examine, whether your mitochondria are working properly.

Read more about Mitochondrial Testing

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Whole Exome Sequencing

Revolutionary genetic testing with whole exome sequencing

Thousands of genes can be analyzed simultaneously for comprehensive testing of complex or unclear cases.

Read more about Whole Exome Sequencing

How Does Testing Work?

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

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

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

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Doctor obtains the necessary sample (blood/saliva)

Understanding Your Results

Positive Result

A disease-causing mutation was identified. 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

Please discuss a postive result with your doctor. The results may suggest new treatment, or changes to current treatment.

Negative Result

A disease-mutation was not detected.

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 detect all possible genetic changes that cause a particular condition. Please discuss results with your doctor. Each case is unique.

Unclear Result

A mutation was detected, but there is insufficient information in the medical literature to confirm it causes disease or if it represents 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 additional family members can help clarify this result and should be discussed with your doctor.

Frequently Asked Questions Genetic Testing

What if my Insurance won’t pay for testing?

If you are uninsured, CENTOGENE offers affordable self-payer options for genetic and biochemical testing. To find out more about self-payer options, visit: Billing Options

Already had a test?

See our results section for general guidelines on how to interpret them. Note that genetic test results and the implications are complex. Consult your doctor to discuss the details and next steps.

How do I get a test?

CENTOGENE only accepts requests for genetic tests ordered by a doctor. Genetic test results are complex, and we want to ensure you have the right support to make informed decisions about your healthcare. Ask your doctor to get in touch with us today.

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