Genetic testing involves the following stages:
- genetic counselling with medical geneticists;
- medical examination and consultations with relevant specialists;
- taking a family history;
- determining the mode of inheritance and the recurrence risk for the patient and their blood relatives;
- discussion of the genetic test results;
- multidisciplinary treatment recommendations for monitoring and managing the condition;
- collection or review of genetic material, such as:
- blood, including heparinised blood;
- saliva;
- amniotic fluid;
- chorionic villi;
- heparinised cord blood;
- tumour tissue (for microsatellite analysis);
- other tissues.
Molecular genetics centres carry out the following analyses:
- molecular genetic testing to establish biological relatedness;
- DNA diagnostics of hereditary diseases, including a number of cancers;
- DNA diagnostics of infertility;
- HLA typing.