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 “mutations”) can manifest the disease, and genetic tests may be used to confirm the disease diagnosis.
- For a lot of disorders, genetic testing is the only way to make an accurate diagnosis and help avoid additional unnecessary clinical investigations.
- Genetic testing can guide the clinician in choosing the most suitable therapy and support for the patient.
- A definite diagnosis can be a great relief to patients and families, especially if they have been searching for the answer for long time.
- In some genetic diseases good surveillance and early intervention can save the patient’s life (e.g. early diagnosis of hereditary cancer).
- The results of genetic testing may be useful for future family planning.