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


Your contact partner

DrDieter von Au

Head Medical Genetics
FAMH Medical Genetics

044 269 99 83

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