Genetic testing

HEREDITARY ONCOLOGICAL SYNDROMES

Cancer is currently one of the most common diseases of affluence. Within this group of diseases, there is a smaller subgroup that is characterized by its heredity. This is a group of so-called hereditary oncological diseases or hereditary oncological syndromes. Hereditary oncological syndromes tested include hereditary breast and ovarian cancer, hereditary non-polyposis colorectal cancer (Lynch syndrome), familial adenomatous polyposis of the intestine, medullary thyroid cancer and various types of leukaemia. Rarer hereditary oncological syndromes include Li-Fraumeni syndrome, Cowden syndrome, Von Hippel-Lindau syndrome, familial melanoma syndrome, hereditary diffuse gastric cancer and others.

IMUNOGENETICS

This area of genetic testing includes testing for immunogenetic diseases such as celiac disease (gluten intolerance), lactose intolerance (intolerance to dairy products), fructose intolerance (inability to metabolize fructose and other sugars), histamine intolerance and Bechterew's disease. Immunogenetics is a relatively young field of science, created by the intersection of immunology and genetics. It deals with the study of genetic conditioning of immune system components and genetic regulation of immune reactions.

CYTOGENETICS

Clinical cytogenetics deals with the analysis of chromosomes, their number and morphology, segregation in meiosis and mitosis, and the relationship between the findings of chromosomal aberrations (mutations) and phenotypic manifestations. Basic tests include karyotyping, examination of acquired chromosomal aberrations, FISH (fluorescence in-situ hybridization) and examination of microdeletion syndromes. These methods are mainly used in prenatal diagnostics, for testing infertile couples or donor sex cells.

OTHER HEREDITARY DISEASES

The GHC Genetics laboratories offer testing for a number of other genetic diseases such as cystic fibrosis, fragility X syndrome, spinal muscular atrophy, Y-chromosome microdeletion and others.

HAEMATOGENETICS AND CARDIOGENETICS

This area of genetic testing includes testing for thrombophilic mutations and other mutations associated with bleeding disorders, risk of high blood pressure, heart attack, stroke and others. Thrombophilia is a tendency to increased blood clotting, which is influenced by congenital dispositions, but also by multifactorial external influences (e.g. movement, weight, age, smoking, injury, medication). People with higher blood clotting rates are more at risk of developing blood clots, which can lead to venous thrombosis. Part of the clot may break loose, travel through the venous system and close one of the pulmonary vessels after passing through the heart, causing a pulmonary embolism. Knowledge of the innate disposition to blood clotting can help not only in the reproductive period of life, but also in surgery, long-term immobilization or treatment of chronic diseases.

HAEMATO-ONCOGENETICS

This area of genetic testing includes testing for myeloproliferative diseases. The group of these diseases includes true polycythemia, essential (primary) thrombocythemia, primary myelofibrosis and chronic myeloid leukemia. The word myeloproliferative means that the bone marrow is proliferating and excessive blood cells are forming. Subsequently, uncontrolled proliferation and differentiation of such a transformed cell occurs, resulting in severe hematopoietic disease.

PHARMACOGENETICS

This area of genetic testing includes the analysis of hereditary variability in the organism's response, which is dependent on the use of clinically relevant drugs. The result of the examination is often decisive for the choice of the patient’s treatment in a number of diseases.