Molecular Genetics

About 5,000 diseases are known or suspected to have a genetic etiology (cause). During recent years the molecular basis of many of these diseases has been unraveled. Approximately  2,500 genetic disorders can be diagnosed by molecular genetic methods to-date.

Different types of genetic tests enable us to analyse the hereditary information of cells or of an individual. Depending on the mutation that forms the basis of a particular genetic disease, different levels of the genetic information can be looked at. For example, aberrations in the numbers and structures of chromosomes can be diagnosed by means of cytogenetic or molecular cytogenetic testing using a light microscope. Mutations of individual genes or gene regions can be detected via molecular genetic testing of DNA

Levels on which human genetic analyses
can be performed