Medical Genetics
The Medical Genetics department is primarily concerned with determining the cause of genetic disorders, diagnosing them, and assessing the risks associated with them. We use cutting-edge molecular genetic and/or cytogenetic investigative procedures (pre- and postnatally) to detect chromosomal, monogenic, multifactorial and mitochondrial disorders, and identify patients’ underlying predisposition to said disorders.
Examples of investigative methods
Real-time PCR, qPCR, next-generation sequencing, Sanger sequencing, MLPA, fragment length analysis, ARMS, CNV, capillary electrophoresis, gel electrophoresis, fluorescence in situ hybridisation.
Examples of analyses performed
(further analyses can be performed on request)
| Disease area | Investigations (single gene/gene panel) | |
|---|---|---|
| Blood clotting disorder | Factor V Leiden, factor II prothrombin, MTHFR, PAI-1 | |
| Fertility / reproductive medicine | Azoospermia factor, cystic fibrosis, fragile X syndrome, karyotype, spinale muscular atrophy | |
| Intellectual disability | Fragile X syndrome | |
| Metabolic and endocrine disorders | Cystic fibrosis, fructose intolerance, haemochromatosis, lactose intolerance, coeliac disease | |
| Myeloid neoplasia | BCR-ABL, JAK2, calreticulin | |
| Neurological disorder | Duchenne muscular dystrophy, myotonic dystrophy type 1, spinal muscular atrophy | |
| Pharmacogenetics | ABCB1, cytochrome, HLA-A*31, HLA-B*57, UGT1A1 (Gilbert-Meulengracht’s syndrome) | |
| Prenatal examination | Non-invasive prenatal testing (NIPT), foetal rhesus factor (RhD) | |
| Rheumatic disease | HLA-B*27, HLA-B*51 | |
| Tumour disease | Hereditary breast and ovarian cancer (HBOC), lung cancer, stomach cancer, pancreatic cancer, prostate cancer |
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