How Are DNA Tests Helpful In Identifying Genetic Diseases?

DNA Tests Helpful In Identifying Genetic Diseases

A lot of physical traits can pass from generation to generation via DNA and genes. Unfortunately, the diseases can also travel through DNA. Want to know more? Let’s discuss in depth how DNA analysis services help identify genetic diseases. Diagnosing them on time can save many lives.

What Is Genetic Testing?

Genetic testing is the comprehensive study of the changes (also called mutations) or variants in your DNA. The testing is performed for several reasons but is most likely to timely diagnose the possibility of genetic diseases or disorders. To be honest, mutations of disease through genes do not give a 100% guarantee that you will have it in the future.

For instance, if type-2 diabetes runs in your family, you take good care of your sugar intake and lead a healthy lifestyle. Even the positive results of genetic testing will not lead to the disease. Genetic testing is to find out the possibilities and sometimes prevent a particular disease way before.

What genetic testing includes?

Most genetic tests revolve around testing the Genes, chromosomes, and proteins.

Genes – studying DNA sequences to identify variations (mutations) that can increase the chances of a particular disease.

Chromosomes – Chromosomal genetic tests involve whole chromosomes or long lengths of DNA to ensure any significant change in the genes.

Proteins – Biochemical genetic tests involve the amount or activity level of protein/enzymes, the abnormalities in either of the two can indicate changes in the DNA leading to genetic disorders.

Types Of Genetic Tests

Single Gene Testing
As the name suggests, single-gene tests are to identify changes in one gene. The tests are recommended when the doctor believes that you and your child have a specific condition/syndrome or there is a known mutation in the family, such as in the case of Duchene muscular dystrophy or sickle cell disease.

Panel Testing
Panel testing involves identifying changes in several genes with one test. The panels are grouped under categories as per different medical concerns. Panel genetic tests are usually performed on a group of genes associated with high-risk cancers like breast cancer or colorectal/colon cancer.

Large Scale Genetic Testing
Exome sequencing – looks for all the genes (whole exome) or the genes related to the specific medical conditions (clinical exome).

Genome sequencing – when genetic testing does not result in a diagnosis, but the genetic cause is suspected. Genome sequencing is the most advanced DNA test. It is done when a person shows a complex history of genetic disorders or medical conditions.

Reading Genetic Test Results

Positive – the genetic change is known to cause the disease.
Negative – test did not find a genetic change or mutation known to cause the disease.
Uncertain – the information is not enough to determine whether the change is benign (normal) or pathogenic (disease-causing).


The Carlson Company offers you DNA and genetic tests alongwith genetic and nutritional counseling. If you are seeking the best results and guidance with 100% confidentiality, reach out to The Carlson Company.