The genetic testing process for familial Alzheimer’s disease

A Youngtimers Guide ・ Last Reviewed July 2, 2025

Many people wonder what to expect during the genetic testing process. What will it actually be like? How long will it take?

Genetic testing often includes 2-3 sessions which range from 30 minutes to 1.5 hours in length.

The process may include:

• A pre-testing session with a genetic counselor (to go over risk and decision)

• A psychological evaluation (recommended by some genetic counseling sites)

• Sample collection (blood test, saliva collection, or a cheek swab)

• A post-testing session with a genetic counselor (to go over the result, normally one to three months after sample collection)

Pre-testing genetic counseling

Your first session will include a review of your personal and family history. The genetic counselor will inform you of the benefits, risks, and limitations of genetic testing. They’ll discuss the inheritance of the genetic mutation of interest, answering questions that include: 

• What is autosomal dominance?

• How are genetic mutations passed on in the family? 

• What are the chances of getting the disease?

• What are the chances of offspring or children getting the disease?

The genetic counselor will draw a family tree, noting who has been affected by the disease and whether or not these individuals have been tested. This is also when you will provide a report of any family member’s genetic testing results, if you have one.  

The genetic counselor will also walk through potential scenarios, discussing your anticipated responses to a negative and positive test result. This provides a chance to discuss what it might be like to learn you tested positive or negative for the mutation, and how each of these potential results may affect your feelings, mental state, life plans, goals, spouse, relationships with others, finances, reproductive choices, and more. 

At the end of the first session, the genetic counselor will ask if you are ready to provide tissue for testing. If you agree to proceed, you’ll need to work out how the payments will be made. If you are testing under a pseudonym, you’ll need to bring a cashier’s check ahead of time.

DNA sample collection

Genetic testing requires DNA. If you decide to proceed with genetic testing, a DNA sample will be collected in the form of a blood draw, saliva, or a cheek swab.

It will be placed in an envelope, and sent to the test facility specially equipped to do precise genetic testing. Test facilities are often:

• Athena Diagnostics ⧉

• Invitae ⧉, acquired by Labcorps in 2024

• PreventionGenetics ⧉, acquired by Exact Sciences in 2022

Preparing to receive your results

You can speak with your genetic counselor about your questions and preferences for receiving the important news that follows the test. 

• How long until your result is ready? 

• Should your counselor wait to open your result envelope until your next session?

• When, how, and where you would like to receive your genetic results?

Members of the Youngtimers community who have been through this have suggested thoughtful planning for the day of your results appointment.

It may be wise to ensure that neither you nor your support person have obligations after the appointment, if possible. This way, you have a chance to process what you learn.

If you have kids, it may be a good day to arrange care for them on the day or evening after you get your results.

Getting your results

One to three months after you provide a DNA sample for testing, you’ll meet with the genetic counselor again. In this session, the genetic counselor will ask whether you are ready to hear your result. Other at-risk individuals recommend that you not try to “read” into your genetic counselor’s behavior, it will in no way reflect your genetic status. 

There are many cases in which people decide at that moment to wait to hear their results. There is no pressure to do it any sooner than when you are ready. 

Once you are ready, the counselor will reveal your test results, in some cases this is opening the result envelope on the spot.

After testing

Depending on your results, your experience after genetic testing can be pretty different.