Genetic Testing: A Simple Guide

Genetics play a big part in our lives. They can determine the quality of life a person has. They are the reason why we tend to look like a particular person in the family. Some expectant mothers either get tested for a specific genetic defect or test their unborn child to determine if a gene has been passed down to them.

Genetic testing has played a major role in the field of medicine and understanding the human makeup.

What is Genetic Testing?

Genetic tests are a form of medical tests carried out by healthcare practitioners to determine the makeup and the changes found in genes and proteins as well as chromosomes in a body. Genetic or DNA testing measures changes by performing RNA analysis to determine gene expression. It also uses biochemical analysis to determine the output of specific proteins.

As mentioned above, genetic testing looks at the changes that occur in proteins and genes, and chromosomes. It is, therefore, essential to have a basic understanding of what this entails.

Proteins: Medical practitioners analyze the activities of the proteins as well as the amounts of enzymes contained. Any anomalies in the quantity or activity of the proteins could point towards a genetic disorder.

Genes: With this form of test, the DNA sequence of a cell is looked at to try and uncover any mutations that could point towards the risk of a genetic disorder.

Chromosomes: This test looks at the chromosomes themselves to see if there are no extra copies that could lead towards a genetic condition.

Genetic testing helps scientists and doctors prevent disease, create treatments and cures, and improve the overall life expectancy of humans.