Gene Panel Testing

About this test

Gene panel testing is a test that can help to understand if your or your child’s health concern has a genetic cause.

What is a gene?

Genes are the instructions that tell your body how to develop and function. They are like a recipe for making cookies or the blueprints for a house.

You have 2 copies of almost every gene. One copy comes from the egg and one from the sperm that formed you. There are thousands of genes that are important for our health.

What is gene panel testing?

Gene panel testing looks for any differences that may disrupt a gene and cause health concerns. We call these differences disease-causing variants, or pathogenic variants.

Imagine your genetic instructions as a large library and your genes as books in the library. With gene panel testing, we are reading through many different books in the library to see if there are any misspelled, extra, or missing words that cause a book to not be understood. Gene panel testing generally looks only at the books that are important to your specific health concern. It does not read every book in the library.

Gene panel testing is done on a blood sample taken at your local lab or, in some cases, on a saliva (spit) sample. There is no cost to you for this test.

As the testing is highly specialized, the results may take several months to come back. Ask your healthcare provider how you will get your results or your child’s results.

What type of results could I get?

• Positive result (pathogenic variant): A positive result means that a genetic cause is found for the health concern. Sometimes, knowing the genetic cause can lead to a specific treatment. More often, a positive result does not change recommendations for your or your child’s medical care. In most cases, it will provide information on how the condition may be passed down in your family. If a genetic cause is found, then genetic testing may be a helpful screening tool for your family. Genetic counselling is recommended for a positive result.
• Negative or uninformative result (no variant detected): A negative or uninformative result means that the test did not find a genetic cause for the health concern. Gene panel testing looks through a select set of genes that are associated with a certain health concern. It does not check for every possible genetic condition. In some cases, your healthcare team may suggest more testing. Although our understanding of genetics is growing every day, there are limitations to what is known at this time.
• Uncertain result (variant of uncertain significance): An uncertain result means that a genetic difference was found that is not well understood. It may or may not explain your or your child’s health concerns. If you have an uncertain result, your healthcare team will discuss possible next steps to try to better understand this result. Genetic counselling may be helpful in some cases to help understand if the variant tracks with the condition in your family.
• Complex result: There are several types of complex results. A complex result can mean that the test found more than 1 genetic difference. A complex result may also identify a syndrome. A syndrome is a collection of health concerns due to the same cause. In these cases, you may need more tests or be referred to a specialist. Complex results are rare.

Genetic counselling is available to you if you have questions about your result.

What do my test results mean for life insurance?

Because gene panel testing can tell you information about your health, it may bring up questions regarding life insurance. There is currently a law in Canada that provides some protection. For example, an application for life insurance should not ask about genetic results. However, the application may ask about medical conditions for you and in your close biological relatives.

To see this information online and learn more, visit MyHealth.Alberta.ca/health/aftercareinformation/pages/conditions.aspx?hwid=custom.ab_gene_panel_test_inst.

For 24/7 nurse advice and general health information call Health Link at 811.

Current as of: May 27, 2024

Author: Clinical and Metabolic Genetics Program, Alberta Health Services

This material is not a substitute for the advice of a qualified health professional. This material is intended for general information only and is provided on an "as is", "where is" basis. Although reasonable efforts were made to confirm the accuracy of the information, Alberta Health Services does not make any representation or warranty, express, implied or statutory, as to the accuracy, reliability, completeness, applicability or fitness for a particular purpose of such information. Alberta Health Services expressly disclaims all liability for the use of these materials, and for any claims, actions, demands or suits arising from such use.