Genetic Disorders

Genetic disorders arise from a change in your DNA. Sometimes these changes have no obvious affect and we are totally unaware that they exist. Other times these changes can have an affect on our appearance and on our ability to do certain tasks or become apparent when we start to try and conceive a baby.

These genetic changes may be:

  • a mutation (where a DNA base is substituted for another)
  • a deletion
  • a duplication
  • an inversion
  • a translocation (where part of one chromosome is transposed to another)

Some genetic changes are well-characterised and known collectively as genetic disorders. It can be important to know if you or your child has a genetic change in order to understand why they look or behave in a certain way and to access treatment and support.

Some of our tests can help with the diagnosis of a specific genetic disorder. We have an extensive range of FISH probes and molecular tests. If you cannot find what you are looking for below, please use the search function.