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Genetic testing for amyloidosis

There are various types of amyloidosis. One of them, amyloid transthyretin (ATTR) amyloidosis, may be hereditary. That means you inherit it from your parents. A child has a 50% chance of inheriting the gene for ATTR amyloidosis if one of their parents carry a mutated (changed) gene. Most people who inherit a mutation will develop the disease, but not everyone who has a mutation will.

Your doctor may suggest genetic testing if there is a family history of amyloidosis.

What is genetic testing for amyloidosis?

Genetic testing for amyloidosis looks at your DNA to see if you have changes (mutations) in the TTR gene that could cause amyloidosis. This is done using a blood or urine sample or a swab from inside your cheek. It also shows just what type of mutation you have. There are over 130 different genetic variations discovered so far in ATTR. There’s at least 60 variations in non-TTR hereditary amyloidosis diseases. However,  they all don’t lead to the condition.1 Knowing what mutation you have helps the doctor make the best treatment plan for you.

For example, one specific mutation in the TTR gene leads to amyloid deposits mostly in the nerves. Another mutation leads to deposits mostly in the heart.

Talk to your doctor to see if genetic testing is right for you. Your doctor may refer you to a genetic counselor to help you understand the process, the pros and cons, and the results.

Here are some resources to help you manage your day to day.

Amyloidosis Foundation. https://amyloidosis.org

Amyloidosis support groups:  https://www.amyloidosissupport.org

Amyloidosis Research Consortium:  https://arci.org

My Amyloidosis Team:  https://www.myamyloidosisteam.com

The Bridge:  https://www.hattrbridge.com

The more you know about your amyloidosis, the easier it is to play an active role in your treatment. This is an important part of successfully treating and managing your condition. Your CVS Specialty CareTeam is available to answer your questions and help with side effects. They can also provide you with the information you need to effectively manage your condition. If you have questions or want to learn more, talk to your doctor or your CareTeam at 1-800-237-2767, M-F 8:00 am – 8:00 pm ET.

1.  Amyloidosis Foundation. Hereditary amyloidosis. Found at: https://amyloidosis.org/facts/familial/. Accessed March 21, 2024.

This information is not a substitute for medical advice or treatment. Talk to your doctor or health care provider about your medical condition and prior to starting any new treatment. CVS Specialty assumes no liability whatsoever for the information provided or for any diagnosis or treatment made as a result.