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What is Genetic Testing?

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.

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.

Genetic changes or mutations can occur in certain gene(s) that are associated with specific hereditary cancer or disease risks. This test analyzes these particular gene(s) to determine if there are genetic changes present in your test sample that significantly increase your risk for developing inherited cancer or diseases. Genetic testing provides a more precise estimate of a person’s risk for hereditary cancers and diseases than using your personal and family history alone. In some cases, the results of this test may also provide information about risks for medical conditions that are not related to cancer.