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Genetic testing can feel confusing—or even scary—especially when you’re already dealing with an FTD diagnosis. Many people wonder whether testing is necessary, helpful, or even right for them.You may hear people say, “Everyone with FTD should be offered genetic testing.” That simple sentence often leads to three big questions:
Let’s walk through these with answers in clear, everyday language.
About 15–20% of people with FTD have a genetic (inherited) cause. This means a change in a gene that helped lead to their condition.
Knowing whether FTD in you or your loved one has a genetic cause can:
For many families, this information helps with planning, decision-making, and feeling more informed about next steps.
We often talk about genetic testing as if it’s just one thing. In reality, it’s more like a menu of options.
Think of it this way: saying “get genetic testing” is like telling someone to “buy clothes” without saying whether you mean a coat, shoes, or a sweater. To choose the right option, you need a little more guidance.
Your body’s instructions are written in DNA.
We all have about 20,000 genes. Everyone has the same set of genes, but small differences in the “letters” make each of us unique. Many of these differences are harmless, like those that affect eye color or height. Others can change how a recipe works and, in some cases, can lead to disease.
There are two main steps:
While interpretation is a critical step, and requires expertise, all genetic test will include some type of interpretation. What really changes from test to test is how much DNA is being read.
Scientists have found more than 10 genes that can cause FTD and hundreds related to neurodegenerative diseases. However, most genetic cases of FTD are linked to just three genes:
Different tests look at different numbers of genes. Understanding what genes a test includes can help you know how thorough it is.
Single-gene testing looks at one specific gene at a time.
This approach is usually chosen when there is a strong reason to focus on a particular gene—for example, if a family already knows which gene is involved, or if a clinical trial or research study is only interested in one gene.
Why people choose single-gene testing:
Things to keep in mind:
For families with a known genetic diagnosis, single-gene testing can be an efficient way to confirm results or help other relatives understand their risk. For families without a clear genetic lead, it may be too limited on its own.
Gene panels look at a selected group of genes that are known to be linked to FTD or related brain and nerve conditions.
Some panels focus only on the three most common FTD genes (C9orf72, GRN, and MAPT), others include all genes related to FTD while others are even broader and include genes connected to FTD, ALS, and other types of dementia or neurodegenerative disease.
These panels can range widely in size—from 20–40 genes to several hundred genes—depending on the lab and the purpose of the test.
Why people choose gene panels:
Things to keep in mind:
For many families, gene panels offer a good balance between depth and practicality, especially when there isn’t a strong clue pointing to one specific gene.
Whole Exome Sequencing looks at the protein-coding parts of all genes—the sections of DNA that give instructions for how the body’s cells are built and how they work.
While these regions make up only a small part of your total DNA, they are where many known disease-causing changes are found.
Why people choose WES:
Things to keep in mind:
WES is often chosen when earlier testing, like gene panels, did not provide clear answers, or when symptoms do not neatly fit one condition.
Whole Genome Sequencing looks at all of your DNA—both the parts that make proteins and the parts that help control how and when genes are used.
This provides the most complete sequence of a person’s genetic information.
Why people choose WGS:
Things to keep in mind:
WGS is often considered when families want the most comprehensive testing available, especially after other testing has not provided clear answers.
Choosing genetic testing is not just a medical decision—it’s a personal one. Here are a few things to think about:
While genetic testing is appropriate for everyone with FTD, if several relatives have had FTD, ALS, or similar symptoms, genetic testing may be especially helpful. When possible, it’s often best to test someone who is affected first before testing family members who do not have symptoms.
Learning genetic information can bring relief, but it can also be stressful. Some people want to know everything they can. Others prefer not to. There is no “right” or “wrong” choice.
There are laws that protect against some types of genetic discrimination, but it’s still important to talk with a genetic counselor about what protections exist and what questions to consider.
If you had genetic testing in the past (for pregnancy or cancer, for example), those tests likely did not include FTD-related genes. A genetic counselor can help review what was done and whether new testing would be useful.
If you are ready to get tested or are thinking about it and want more information, talk to a genetic counselor.
Genetic counselors are trained medical professionals who can talk you through:
If after talking to a genetic counselor you are ready to proceed, a genetic counselor can help facilitate your testing and then will meet with you when results are ready to walk you through them.
Genetic testing for FTD can provide powerful and meaningful information, but there isn’t one “best” test for everyone.
The right choice depends on:
If you’re thinking about testing, a genetic counselor is a great place to start. They can explain your options, walk you through the process, and support you in making a decision that feels right for you and your family.
NOTE: The Site is provided for informational purposes only, and is not intended to provide, or be a substitute for, medical advice, diagnosis or treatment recommendations. Any user that intends to use information from the Site should first consult with their healthcare provider.
