The basic unit of the heredity known as the gene plays a crucial role in disease and inheritance. If it gets mutated at wrong sites, it passes on the undesired traits to the population. Genetic diseases arise due to an underlying mutation in the gene. The effect of all mutations may not necessarily be a disease. However, the mutations occurring at wrong sites, lead to altered products such as proteins and enzymes having altered functions leading to genetic disorders. There are many examples of genetic disorders in humans. They follow different patterns of inheritance. For example, the BRCA gene mutation leads to breast cancer. Similarly, mutations in the mitochondrial DNA follow the maternal pattern of inheritance.





Image 1: Molecular testing





The genetic disorders are either present by birth or may develop during later stages of life. Most of them are congenital, meaning, their occurrence is by birth. With the help of genetic testing, it is possible to detect them before birth. Importance of genetic testing lies in the prevention of genetic disorders. It helps in preventing the birth of babies who may suffer later on. It helps in decision making and genetic counseling. Genetic testing also reveals types of mutations. We can understand the chances of getting a disease in the future. Thus, the field of genetic testing is advancing further. With the help of genetic testing, it is possible to detect disease genes in a family.