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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.

Analyses
Familial Mediterranean Fever (FMF) - MEFV 30 000 AMD
Duchenne and Becker Muscular Dystrophies (DMD and BMD) – DMD 20 000 AMD
Cardiovascular (CVD), Thrombophilia risk factors (8 mutations/polymorphisms) 30 000 AMD
Congenital Adrenal Hyperplasia (CAH) - CYP21A2 30 000 AMD
Cystic Fibrosis (CF) - CFTR 30 000 AMD
Cystic Fibrosis (CF) - CFTR (prenatal) 55 000 AMD
Spinal Muscular Atrophy (SMA) - SMN1 20 000 AMD
Spinal Muscular Atrophy (SMA) - SMN1 (prenatal) 45 000 AMD
Fragile X Syndrome (FRAX) - FMR1 20 000 AMD
Lyme disease (Lyme borreliosis, LB) 12 000 AMD
Alpha Thalassemia (α-Thal) – α1, α2 45 000 AMD
Alpha Thalassemia (α-Thal) – α1, α2 (prenatal) 70 000 AMD
Beta Thalassemia (β-Thal) - β1 40 000 AMD
Beta Thalassemia (β-Thal) - β1 (prenatal) 65 000 AMD
Irinotecan dosing – UGT1A1 15 000 AMD
Gilbert Syndrome (GS) – UGT1A1 15 000 AMD
5-fluorouracil treatment relevance (5-FU) - DPYD1 20 000 AMD
Hereditary Syndrome of Brest and Ovarian Cancer: BRCA 1&2 genes examination 265 000 AMD
Detection of BRCA gene mutations in ovarian cancer cells. Detection of targeted treatment sensitivity (Lynparza – olaparib) 285 000 AMD
Warfarin (Coumarin) anticoagulant therapy optimization -VKORC1 and CYP2C9 30 000 AMD
Ureaplasma parvum & urealiticum 6 000 AMD
Micoplasma genitalium 6 000 AMD
Micoplasma hominis 6 000 AMD
Chlamidia trachomatis 6 000 AMD
Neisseria gonorrhoeae 6 000 AMD
Trichomonas vaginalis 6 000 AMD
Gardnerella vaginalis 6 000 AMD
Human Cytomegalovirus 6 000 AMD
Human Herpes Simplex Virus 1&2 6 000 AMD
Epstein-Barr Virus 6 000 AMD
Assessment of Renal Amyloidosis development risk among patients with Familial Mediterranean Fever (FMF) – SAA1 gene 20 000 AMD
HLA-B27 antigene PCR 30 000 AMD
Haemochromatosis 30 000 AMD
Azoospermia and Oligospermia - Y chromosome microdeletions test 15 000 AMD
Human PapilomaVirus 6&11 6 000 AMD
Human PapilomaVirus 16&18 6 000 AMD
Human PapilomaVirus 31&33 6 000 AMD
Human PapilomaVirus 35&45 6 000 AMD
Consanguinity (paternity, maternity) detection 200 000 AMD
Non-Invasive Prenatal Testing (NIPT) 260 000 AMD
Congenital absence of Vas Deferens - CFTR test 30 000 AMD
Mutations of FII and FV factors of Coagulation and MTHFR 30 000 AMD


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.

Analyses
Peripheral Blood Chromosome Analysis (Karyotype Test) 17 000 AMD
DiGeorge Syndrome (FISH Test) 50 000 AMD
Prader-Willi Syndrome (FISH Test) 35 000 AMD
Angelman Syndrome (FISH Test) 35 000 AMD
Williams Syndrome (FISH Test) 35 000 AMD
Trisomy screen: 13, 18, 21 (FISH Test) 50 000 AMD
X/Y screen (FISH Test) 35 000 AMD
Prenatal Amniotic Chromosome Analysis (Karyotype Test, FISH) 70 000 AMD
Specific chromosome aberration for AML (FISH Test) 45 000 AMD
Specific chromosome aberration for acute lymphocytic leukemia (ALL) (FISH Test) 45 000 AMD
Specific chromosome aberration for pediatric ALL (FISH Test) 45 000 AMD
Specific chromosome aberration for MDS (FISH Test) 45 000 AMD
Chronic myeloid leukemia (CML) (FISH Test) 25 000 AMD
Hypereosinophilic Syndrome (HES) and chronic eosinophilic disorders (FISH Test) 25 000 AMD
Specific chromosome aberration for chronic lymphocytic leukemia (CLL) (FISH Test) 45 000 AMD
Specific chromosome aberration for Non-Hodgkins Lymphoma (FISH Test) 45 000 AMD
Specific chromosome aberration for Multiple myeloma (FISH Test) 45 000 AMD
Burkett’s Lymphoma (FISH Test) 25 000 AMD
CMML (FISH Test) 25 000 AMD
Individual probes for monitoring (FISH Test) 25 000 AMD
Down Syndrome (Karyotype Test) 35 000 AMD
Edwards Syndrome (Karyotype Test) 17 000 AMD
Patau Syndrome (Karyotype Test) 17 000 AMD
PAP-smear test 5 000 AMD
Wolf-Hirschhorn Syndrome 35 000 AMD
Semen Analysis (Spermogram) 6 000 AMD
Down, Edwards and Patau Syndromes Trisomy screen (FISH Test) 50 000 AMD
Karyotype in growth amniocytes 50 000 AMD