How Does Genetic Testing Work?

Genes are the instructions that make each of us unique individuals. They are like recipes for proteins, and proteins determine how we develop, grow, think, and function. Just like a recipe, genes are spelled out in letters (A, T, C, G) in a particular order.

Genetic testing is like proofreading your genetic recipes. By looking at specific genes associated with FTD, the lab can identify whether there is a change, called a variant. Genetic variants can have harmful, beneficial, neutral (no effect), or uncertain effects regarding one’s risk of developing FTD.

Most people with a genetic variant that causes FTD have a family history of the disorder. But not all do. Some people with no family history of FTD have a genetic variant that caused their FTD.

The Genetic Testing Process


AFTD strongly recommends that you consider genetic counseling prior to making a decision about testing. A genetic counselor will discuss the likelihood of finding an FTD-causing genetic variant, as well as other considerations related to genetic testing, including:

Sample Collection

If you decide to move forward with genetic testing, sample collection is simple. Most labs provide a saliva or buccal collection kit that can be obtained from the genetic counselor or mailed right to your home. The kit typically includes everything needed for collection, detailed instructions, and materials to ship the saliva back to the lab (including pre-paid postage). Saliva is collected in a small cup and a buccal sample uses a small brush or cotton swab to collect cells from the inside of your cheek.

Sometimes, a blood sample is needed. Blood draws can be arranged through the genetic counselor, or, in some cases, a home draw can be arranged by the laboratory.

Planning for Results

It is important for both you and your genetic councelor to have a plan in place for how and when you will receive your results. Scheduling an appointment in advance is recommended. There will be next steps to discuss regardless of the result.

Watch AFTD's webinar: FTD and Genetic Testing -- A Practical Approach