What is Genetic Testing?


Genetic testing, often known as DNA testing, is performed to find anomalies in a person’s DNA, chromosomes, or proteins. To do this, doctors take blood, skin, or even hair samples to confirm or rule out the presence of a genetic disease. It also helps us discover the factors that increase the risk of contracting or passing on a genetic illness.

What Does Genetic Testing Look For?

The primary objective of genetic testing is to detect alterations in the genes, chromosomes, and proteins of a person. You can understand the components of your DNA better with the assistance of genetic testing. In addition, as we discussed earlier, it is beneficial in determining whether or not you have a certain condition and whether or not your gene contain a mutation that you can pass on to your child.

Types of Genetic Testing 

Usually, your doctor will carry out many different genetic tests because no single test can adequately detect all the genetic conditions. Therefore, the approach taken when considering genetic testing caters to each individual based on the individual’s medical and family history. These tests include: 

  • Single gene testing: This type of testing looks for any alterations or changes in only one gene. This single testing done by your healthcare provider is carried out when your doctor is of the opinion that either you or your child have been showing signs of a specific condition or syndrome. 
  • Panel Testing: On the other hand, a panel genetic test searches for alterations in many genes with one test. These testing panels are grouped into categories per the medical concern involved. These medical concerns may range from low muscle tone, short stature, or epilepsy. 
  • Large-scale genetic or genomic testing: Under this kind of testing there are two kinds. These include: 
  • Exome Sequencing: This type of test either looks at the genes in the DNA or the genes associated with the particular medical condition. 
  • Genome Sequencing: Also genome Sequencing, which is the most extensive genetic test, examines all the DNA of a person, not focusing on the genes alone. 

The sequencing of an individual’s exome and genome is essential for patients who have complicated medical histories. 


If you or a member of your family has a history of a genetic condition or if you are having signs of a genetic disorder, it is in your best interest to discuss the possibility of undergoing genetic testing with your primary healthcare provider as soon as possible.