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.