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|