General Information About the Test
Test Process and Preparation
It is widely requested in cases of suspected hereditary diseases such as Cystic Fibrosis, SMA (Spinal Muscular Atrophy), Thalassemia (Mediterranean anemia), Familial Mediterranean Fever (FMF), and in the investigation of familial cancer syndromes like BRCA1/BRCA2.
If the test is investigating the presence of a known specific mutation (for example, SMA carrier status), the results are nearly 100% definitive. However, in "predisposition" tests, even if a gene mutation is found, it cannot be said with absolute certainty that the disease will occur; it merely indicates being at high risk.
Like standard blood tests, it is performed by providing a tube of blood and requires no physical preparation or fasting. However, it is extremely important to receive "Genetic Counseling" before the test and to have a detailed discussion with the doctor regarding the psychological and medical impacts of the test's potential results.
The information on this page is for informational purposes only. The results of medical tests must be evaluated by specialist physicians.
