Complete genetic counselling/testing
For couples with the genetic diseases in their family
Prenatal diagnosis
Non-invasive - screening in the 1st and 2nd trimester:
- fetal ultrasound
- 3D/4D, including a DVD record
- Prenascan
Invasive:
- amniocentesis
- choriocentesis
Preconception examination of infertile couples
- molecular genetic testing for the cystic fibrosis gene (CFTR)
- molecular genetic analysis of the Y chromosome microdeletions (AZF factor)
- cytogenetic karyotype examination
- fragile X syndrome
Oncogenetic examination
- Examination of congenital predisposition to cancer (BRCA)
- Genetic testing for predisposition to venous thromboembolism (VTE, myocardial infarction, stroke ...)
DNA testing
- Testing of carriers of mutations associated with genetic diseases
