There are several types of cardiac genetic tests on the market today, each with different purposes, strengths, and weaknesses. Descriptions of the tests can be broken down into three categories: focus, location, and method. There are also three types of results: positive, negative, and uncertain. A positive result means that there is a genetic abnormality. A negative result means that the tested gene is normal or benign. An uncertain result means that there is not enough conclusive information to determine if a gene is influencing a disease or is simply benign.
Focus of Genetic Tests
The human genome, the entire collection of information that determines much of our health and physical appearance, is very large. There are approximately 30,000 genes in a human. As a result, a myriad tests can be used to find abnormalities in the genome. These abnormalities, called mutations, are what create inherited diseases. Because scientists have mapped the entire genome, many tests look at a single gene instead of all 30,000. However, those large-scale tests still exist.
- Targeted Single-Variant test: This type of test looks on a single gene for a specific variant in the genetic structure. Many common genetic mutations have been extensively studied. Because of this, the exact structure of the mutation is known and can quickly be assessed. When we know what type of mutation causes which disease, it becomes easy to confirm suspected diagnoses. It can also be used to screen family members if one tests positive for a genetic mutation. This type of genetic testing is incredibly quick because it looks at so small a sample of genetic material.
- Single Gene test: This type of genetic test looks at a single gene for mutations. This is usually the cheapest and quickest type of test. Usually, a doctor will order this test to rule out or confirm a medical diagnosis. Click to learn how health insurance and medicare help cover costs of doctor-prescribed genetic testing.
- Panel Genetic test: This test examines a panel of genes related to a specific disease or set of diseases. There can be a variety of different genes that affect a portion of our body or a suspected disease. Panel genetic tests help screen an entire range of possible mutations. This is often the most utilized genetic test, as it is effective at ruling out a variety of different mutations without finding too many uncertain results.
- Complete Genetic/Genomic test: This is the largest genetic test available, as it tests the entire 30,000 gene sequence. This test is usually ordered as a bit of a last resort. If a single-gene or panel test returned no conclusive results and the doctor suspects a genetic cause for a disease, this test will likely find something of use. This test tends to be slow to return results and on the more expensive side.
Methods of Testing
There are several different ways professionals may gather genetic material for tests. Some of the more common methods include:
- Blood tests: This type of genetic test gathers genetic material through drawing blood. The procedure is generally performed at a doctor’s office or clinic.
- Stool tests: This type of test is performed most often for colorectal cancer screenings.
- Cheek Swab tests: This is the least invasive type of test. This method often is utilized with take-home type of cardiac genetic tests, such as the Kardia Guard cardiac genetic test.
Location of Tests
Unlike many medical tests, there is some variance in where you can take some genetic tests.
- At-Home Testing: This type of test is often a self-ordered genetic test. Once ordered, a company will send a test kit for a kind of test. Once that test has been completed, the participant sends the kit back to the lab and waits for results. Some doctors will also order self-test kits for their patients. If you have received a kit without you or your doctor ordering one, you may be a target of a Medicare scam.
- Professional Testing: Most tests ordered by your doctor will be performed in a clinical setting.