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Genetic Testing Services

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Genetic testing is a type of medical test that identifies changes in genes, inherited from our parents, which we then typically pass on to our children. “Mistakes” in our genes (called “pathogenic variants”) can manifest the disease, and genetic tests may be used to confirm the disease diagnosis.

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A genetic test is an analysis of our DNA, genetic material in our cells, that gives us specific features and enables our body to perform various functions. A number of different methods exist for fast and reliable testing of our DNA, with sequencing and deletion/duplication analysis being the most common. Sometimes, biochemical/biomarker testing allows an early diagnosis and continuous therapy monitoring, especially in the field of lysosomal storage disorders.

  • For a lot of disorders, genetic testing is the only way to make an accurate diagnosis and help avoid additional unnecessary clinical investigations.
  • Genetic testing can guide the clinician in choosing the most suitable therapy and support for the patient.
  • A definite diagnosis can be a great relief to patients and families, especially if they have been searching for the answer for long time.
  • In some genetic diseases good surveillance and early intervention can save the patient’s life (e.g. early diagnosis of hereditary cancer).
  • The results of genetic testing may be useful for future family planning.
The accuracy of genetic test results is paramount. Major life decisions are often based on genetic test results. Therefore genetic testing should only be performed by accredited, high quality labs that regularly take part in external quality assurance schemes. Ideally patient care involves pre- and post-test genetic counseling to explain the range of options and possible outcomes, in order to obtain truly informed consent.