The field of human genetics has found its way into many medical disciplines, driven by the continuously growing availability of test methods. Classical methods such as chromosome analysis and molecular cytogenetics (fluorescence in situ hybridisation, FISH) are used both in pre- and postnatal diagnostics and in tumour cytogenetics. Advanced methods include PCR-based nucleic acid amplification for maximum analytical sensitivity. Next generation sequencing (NGS) is a new massively parallel sequencing technique that has gained increasing importance as it enables highly efficient analysis of whole gene panels as well as full genomes.
- Prenatal testing of amniotic fluid, abortion tissue, chorionic villi or umbilical cord blood for diagnostic assessment of chromosomal aberrations
- Postnatal chromosome analysis for congenital chromosomal aberrations (e.g. hereditary diseases, developmental disorders, malformations, recurrent miscarriage, infertility, etc.)
- Molecular cytogenetic testing (fluorescence in situ hybridisation, FISH) for microdeletion syndromes (e.g. DiGeorge syndrome, Williams-Beuren syndrome, etc.)
- Molecular cytogenetic testing (fluorescence in situ hybridisation, FISH) in prenatal screening (e.g. rapid testing of native amniotic fluid)
- Molecular genetic testing (e.g. APOE, alpha-1 antitrypsin, haemochromatosis, risk of hereditary thrombophilia (factor V Leiden, factor II, PAI-1), HLA-associated diseases, IL28B, lactose intolerance, MTHFR)
- Pharmacogenetics (e.g. deficiency of dihydropyrimidine dehydrogenase (exon 14 skipping); UGT1A1, CYP2D6)
- Next Generation Sequencing (NGS)
The German Genetic Diagnostics Act (Gendiagnostikgesetz, GenDG) requires the provision of detailed information on the nature, significance and scope of the test, as well as written patient consent (informed consent) prior to any diagnostic or predictive genetic testing.