It should be noted that genetic testing requires careful consideration.

• Healthy children are not offered genetic testing for conditions that do not appear until adulthood.

• Predictive testing and carrier testing in individuals without symptoms are generally best performed following genetic counselling.

• If a genetic variant is found in a person with symptoms, it is recommended that genetic counselling be provided afterward.

• The client does not need to be fasting for a genetic test.

The Role of the Cytogenetics Unit of the Department of Medical Genetics and Molecular Medicine (ESD)

The role of the Cytogenetics Unit is to provide general cytogenetic services for physicians and healthcare institutions throughout the country.

Indications for cytogenetic analysis are varied, but the main emphasis has been on prenatal diagnostics, i.e. the detection of serious chromosomal abnormalities in the fetus early in pregnancy, using samples from amniotic fluid or chorionic villus sampling (CVS).

Chromosome analysis can be performed on blood, skin, bone marrow, and other viable tissues.

Chromosome analysis of blood:

• children: performed when investigating the causes of congenital anomalies or developmental disorders, but also in cases of delayed puberty or abnormally slow growth.

• adults: most often performed in cases of recurrent miscarriages, infertility problems, and in the investigation of certain types of malignancies, particularly leukaemia .

Request forms are in the service manual.