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Genetic Testing: Test DNA for Genetic Mutations, Telomeres, Genes and Proteins for Risk

Medically Reviewed by

What if you could find out whether you’re at increased risk for Parkinson’s disease, Alzheimer’s disease, or hereditary Thrombophilia, a blood clotting disorder, all from the comfort of your own home? In the time it takes to swab your cheek and drop a cell sample in the mail, or submit to a routine blood test at a local laboratory, you can unlock some of the mystery surrounding your DNA and discover whether or not you’re predisposed to certain medical conditions.

Locked deep within each of us is an individual genetic code that determines our eye color, height, hair color—even the size of our nose. Genetics also help determine how likely we are to develop one or more serious medical conditions that could cause health problems in the future, as we age.

How Genetic Testing Works—One More Piece to the Puzzle

While genetic testing can help assess risk for possible inherited diseases and medical conditions, there is no 100% predictor of any medical pathology. Despite all that DNA testing can tell us, it is only one of many pieces to a much larger puzzle. Having genetic markers for certain diseases alone, does not determine whether or not an individual will ultimately develop one.

What does genetic testing look for in my DNA?

DNA can be compared to a very long string of words made up of four letters, A, T, G, and C. Three billion letters make up the string and the majority of these are in a sequence common to most individuals. Genetic markers for certain diseases and medical conditions are sequenced slightly differently however. These markers can be identified and interpreted in a lab and could indicate potential risk for certain medical conditions.

Genetic mutations that change our DNA can occur at any time and may:

  • Be inherited
  • Develop before birth
  • Present during a lifetime

The way in which genetic changes occur, and when, can impact whether these changes will result in disease.

Types of Genetic Testing

Basic genetic tests include three types of testing including molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests. Each test analyzes DNA material differently.

Molecular genetic tests analyze short DNA strands for mutations involved in genetic disorders.

Chromosomal genetic tests look at long lengths of DNA to help identify large changes in sequences, such as an extra copy of a specific chromosome that could lead to a genetic condition.

Biochemical genetic tests specifically study proteins and how they react, which could result in changes to DNA and a genetic disorder.

Genetic Tests Offered for At-Home Testing

Certain tests are available for specific uses including:

Telomere Test

At the end of each chromosome, pieces of genetic material exist to stop the strand from fraying. When cells age, telomeres become shorter and cells begin to stop dividing, and eventually die. Telomere lengths can be analyzed in relation to an individual’s age as a predictor of certain diseases.

Apolipoprotein E Test

This test analyzes genetic risk involving the Apolipoprotein E gene. This relates to the metabolism of cholesterol and triglycerides and may be useful in determining individual response to statin therapies. Studies indicate that most people (about 45%) carry at least one high-risk variant within the ApoE gene.


This enzyme converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate and helps to metabolize folate and homocysteine. Homocysteine, which can be toxic, is then converted to methionine, needed by the body. Testing can help identify risk factors for cardiovascular disease, cerebral vascular disease (stroke), venous and arterial thrombosis and methotrexate toxicity for cancer therapy.

Factor V Leiden & Prothrombin Test

Genotyping may increase the likelihood of whether a person forms blood clots (thrombosis). Chances of deep vein thrombosis are a possibility if either the Factor V Leiden gene or the Prothrombin gene is present. Possible risk of heart attack may also be identified through genotyping.
How Genetic Testing Helps

Genetic tests give individuals information on a possible genetic predisposition to specific medical diseases or conditions.

Informed Decisions

This helps individuals make informed decisions about lifestyle choices such as diet, exercise, smoking, and alcohol use. Test results may also be shared with a medical practitioner to initiate a conversation about health and wellness moving forward.

Genetic Counseling

Some individuals will want to pursue genetic counseling to help them make important decisions about healthcare and any future changes to medications or lifestyle.

Personal Responsibility and Genetic Testing

Direct access to individual genetic information helps individuals take responsibility for their own health rather than leaving it in the hands of the healthcare system.

Genetic testing from home offers individuals an opportunity to further take control of their health and healthcare decisions. Speaking with a healthcare professional about genetic testing results may help individuals avoid certain disease processes if they can make changes to diet, sleep, exercise, and stress. Modifying a lifestyle to manage risk of developing specific disease pathologies is an important step to wellness and overall good health.

Who should get home genetic testing?

Genetic testing performed from the privacy of your own home can benefit many individuals including those who:

  • Are healthy and want to prevent the possibility of certain genetic related health conditions.
  • Already know that certain conditions may run in their family.
  • Want to know if they are a carrier for certain genetically related health conditions and could possibly pass the gene mutation for the condition to future offspring.
  • Wish to start a conversation with their personal healthcare professional about a possible predisposition to a medical condition.
  • Are aware of a sibling or parent who has been diagnosed with a particular medical condition and want to know if they are at increased risk for developing the condition.

How will I get my genetic test kit?

A test kit will be shipped to you, with specific instructions on how to collect your cells. Generally either a cheek swab or saliva sample must be provided by you. Specific instructions on sending the cell sample to the lab will also be included in the test kit.

How will I get my results?

The test results are generally posted to a secure website where they can be viewed by you in the privacy of your own home.

What genetic testing cannot tell you—Limitations of Tests

Rarely does one gene make an individual prone to a specific health condition. Generally, several genes work together, along with lifestyle choices to create disease in an individual. Alzheimer’s disease, for example, involves many different genes, though it is not yet known how each precisely helps predict the risk of developing the disease.

DNA markers for certain diseases and medical conditions do not indicate you will definitely get the disease. While thousands of genes can be “read” for genetic likelihood of developing a condition, lifestyle and other factors will also impact whether or not an individual gets a disease. In some cases however, such as in the case of a harmful BRCA1 mutation, or BRCA2 mutation 45-65 of women will develop breast cancer by age 70.

What is meant by a positive test result?

A positive test result means that the laboratory found a change in a particular gene, chromosome, or protein of interest. This result could further confirm a diagnosis, indicate that a person is a carrier of a particular genetic mutation, identify an increased risk for developing a disease, or suggest a need for further testing. A positive result of a predictive or presymptomatic genetic test may not establish the exact risk of developing a disorder. Health professionals typically cannot use a positive test result to predict the severity of a condition or treatment protocols.

What if the test indicates I’m negative for a specific gene?

A negative test result simply indicates that the laboratory did not find a change in the gene, chromosome, or protein subject to testing. This may further indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic mutation, or does not have a higher risk of developing a certain disease. It is possible, however, that testing missed a disease-causing genetic alteration since most tests cannot detect all genetic changes causing a particular disorder. Further testing may be required to confirm a negative result.

Deciding to get genetic testing is a personal choice and one that only you can make for yourself.


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