Genetic testing is a type of medical test that identifies changes in the DNA sequence, which we can pass on to our children. These changes in our DNA, called “pathogenic variants,” can manifest in disease. Genetic tests can detect such variants and confirm a disease diagnosis.

DNA is the genetic material in our cells that serves as the blueprint for our unique features. It carries the instructions that enable our body to perform various functions. Several different methods exist to quicky and reliaby test our DNA; sequencing and deletion/duplication analysis are the most common. Biochemical/multiomic testing can also often aid in diagnosing disease earlier and can also enable continuous therapy monitoring, especially in lysosomal storage disorders