Techniques involving the detection of specific genes and mutations in the genetic constitution of an individual have developed tremendously with the scientific advancement of molecular genetics. Several tools are available that can detect an abnormal status of a gene in an individual either before or after its birth. Knowledge of genetics is also used for identification of individuals with the help of molecular (DNA) fingerprints. Expression of genes can also be regulated with the application of correct ‘factors’ responsible for modulation of genetic activities in the cell. In case of detection of a genetic disease in an individual, or detection of a probability of a genetic disease in an individual or in its offspring, counselling may be sought regarding the management of such a situation. Several therapies are being tried out to manage these genetic disorders. Advanced techniques are very helpful not only to detect the genetic cause of the disease but also aids in understanding the mechanism of such disease.