Couples who are planning to get married or become parents are recommended to consult a genetic specialist regarding genetic disease risks, whether or not they have a consanguineous marriage.
During pregnancy, it is necessary to evaluate potential risks to both the mother and the baby that may arise due to certain genetic diseases. Once these risks are assessed, appropriate preventive measures can be taken. Especially when these tests are performed before pregnancy, measures can be implemented to prevent the occurrence of genetic diseases prior to conception. Many of these risks cannot be identified through routine physical examinations or medical history alone. These are diseases that may pose life-threatening risks, cause physical or intellectual disabilities in the newborn, or lead to serious organ-related problems. In addition to the core package, this screening also includes genetic conditions that are common in the population and carry high pregnancy risks but cannot be detected by other methods, and can only be identified through exome analysis.
Tests to Be Performed
- Whole Exome Sequencing
- DMD
- SMA
- 21-Hydroxylase Deficiency
- Alpha Thalassemia
- Fragile X
Who Can Take the Test?
- Individuals planning a pregnancy
- Especially couples with consanguineous marriages
- Blood samples are collected from both partners
Number of Genes Analyzed
4480
Possible Evaluations Based on the Analyzed Genes
- Assessment of maternal pregnancy-related risks
- Assessment of the baby’s disease risk during pregnancy