What is a Genetic Testing

We will take genetic testing to include two broad categories of application:predictive, carrier and diagnostic testing and secondly, DNA Fingerprinting. Predictive, carrier and diagnostic testing are described in the Overview. DNA fingerprinting is presented as a special topic.

Inherited diseases are known to be associated with abnormalities in certain specific genes or chromosomes. For example, there are several diseases known to be linked to specific genetic mutations, like Tay-Sachs disease and cystic fibrosis. Predictive, carrier and diagnostic testing is capable of assessing the extent to which these abnormalities are present in an individual's genome.

Before exploring how genetic testing techniques are used to identify these and other disorders, we need to understand how faulty genes can trigger disease.