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Genetic services

Division of genetic counselling services provides information, counselling and support for families with, or at risk of, genetic conditions caused by changes in certain genes. CMG provides counselling for prenatal, neonatal, paediatric and adult onset disorders. Our clinical geneticists and genetic counsellors are trained in medical genetics and specialize in the diagnosis of genetic disorders. These specialists work as members of a healthcare team with specialists or primary physicians, providing up-to-date clinical information, counselling, including interpretation of tests, andsupport to families who:

- have members with birth defects or genetic disorders,
- may be at risk of a variety of inherited conditions.

Patients or families are usually referred to the genetics clinic when:

- a child is born with multiple abnormalities, isolated birth defect, or positive newborn genetic test - a patient have intellectual disability and/or developmental delay
- there is a personal or family history of a genetic condition
- couples have a history of recurrent miscarriages
- a person is at risk for a genetic condition, including late-onset disorders (cancer)
- a person or family have questions about the genetic aspects of any medical condition

During genetic counselling, the clinical geneticist/counsellor

- asks about medical history and family history of genetic conditions
- addresses questions and concerns about risk and the possible risk to children or family members of the genetic condition
- discusses important medical information in terms patients can understand
- works with primary physicians or specialists and provide management or rehabilitation recommendations
- provides information about reproductive technology or prenatal screening when necessary

Molecular Genetic Laboratory

The department of molecular genetics provides prenatal and postnatal genetic diagnosis of common and rare hereditary disorders, genetic testing of multifactorial diseases, pharmacogenetic testing of genetic polymorphisms relevant for the treatment of different types of diseases, patient and presymptomatic testing of hereditary forms of cancer, and detection of infections by using different techniques of molecular genetics.

Cytogenetic Laboratory

The cytogenetics department provides complex chromosome testing both for the prenatal diagnosis based on tests taken from amniotic liquid, chorionic villus samples, as well as for the postnatal diagnosis from peripheral blood, skin fibroblast and buccal smears. Along with constitutional chromosome analysis which include also the diagnosis in microdeletion syndromes with FISH method department offers cytogenetic study related to hematological malignancies in order to identify various types of leukemia. Cytogenetic analysis in leukemia include numerous available FISH probes to provide information regarding hematological prognosis and treatment strategies.