For a precise molecular genetic diagnosis in the presence of clear clinical symptoms, it is often helpful to carry out a targeted test for a single genetic variant. The purpose of genetic target diagnostics is to make a precise diagnosis, assess risks, make treatment decisions and provide genetic counseling for patients and their families.

Predictive testing usually examines a single variant known in the family that is associated with an increased risk of developing a disease or trait.

Both target diagnostics and predictive testing for the presence of a genetic variant are carried out using Sanger sequencing in the accredited area.

Material: 2.7 ml EDTA blood or already isolated DNA (2 µg), in the case of predictive testing, confirmation of the result from a second independent blood sample is recommended.