Genetic Testing of Diseases

About Genetic Testing

Genetic testing involves the study of genetic material, using laboratory techniques, to detect a genetic condition in an individual

Genetic testing is usually used to diagnose a disorder and also to evaluate the possibility of an individual developing a certain disorder.

Genetic Screening is available for more than 1300 genetic disorders, some of which are listed below-

• Cystic fibrosis
• BRCA screening for breast cancer
• Colon cancer
• Huntingdon's disease
• Sickle cell trait
• Thalessemias
• Phenylketoneuria
• Tay-Sach's disease
• Muscular dystrophy
• Hemophilia
• ADA deficiency
• Most of the chromosomal abnormalities such as- Down syndrome, Turner's syndrome, Klinefelter syndrome

It is widely known that every human being carries 46 chromosomes, in each cell. Located on these chromosomes are the genes, which produces key proteins, such as hormones and enzymes, which play a pivotal role in the well- being of an individual. Some diseases result from abnormalities or 'mutations', on the chromosomes. Others may arise due to defects in the genes. In some instances, genetic abnormalities are hereditary, while in others it is brought on spontaneously or 'de novo'. It is now widely believed by the scientific fraternity that a combination of genes and environment brings about these mutations, leading to a range of illnesses.

Earlier genetic testing was confined to detecting aberrations on the chromosomes through a method called Karyotyping. In recent times, evaluating the DNA, which is the basic unit of heredity, has been made possible, by sophisticated techniques. This has paved way to the better understanding of the familial pattern of inheritance of a wide array of diseases and the identification of the increased propensity of some individuals to develop these diseases.

Each generation is a filter, a sieve; good genes tend to fall through the sieve into the next generation; bad genes tend to end up in bodies that die young or without reproducing. - River Out of Eden