Our genetic makeup (DNA, chromosomes, genes and proteins) is what makes each of us unique. Many diseases are caused by changes or mutations in certain genes. Genetic testing is performed to identify abnormalities in the genetic makeup of a person, which may cause illness or disease. Genetic testing may be done to:
- Diagnose genetic conditions
- Detect the correct medication and dosage required for a particular medical condition
- Test for genetic conditions before symptoms surface, especially if you have a family history of genetic condition
- Identify genetic diseases in unborn babies
- Screen newborns for certain gene abnormalities that cause specific conditions, so that immediate treatment can be planned
- Ascertain if you carry a gene for a disease that may pass on to your children
- Screen in vitro fertilized embryos for genetic abnormalities before implantation
Genetic testing is performed using samples collected from blood, cheek tissue, amniotic fluid (protective liquid in which the unborn child develops) or chorionic villus (finger-like extensions of placenta). These are sent to the laboratory for analysis.
Depending upon the type of test done, it can take weeks or even months for the results to become available. Although genetic testing may give you an insight into the disease you may develop, it does not always necessarily mean that you will develop a certain condition if your genetic test comes positive. It may show that with a particular gene abnormality, your chances of getting a particular disease are higher. Similarly, it does not necessarily mean that if you get a negative result, you will never develop a genetic disorder in the future. Talk with your doctor to understand your results better and steps to take to either treat or prevent genetic disorders.