23andMe Genetic Risk Report for TTR-Related Amyloidosis

23andMe added a new Genetic Health Risk report on TTR-related hereditary amyloidosis. It is a genetic, multi-system disease.

Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body’s organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting to the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound.

Protein deposits in these nerves result in a loss of sensation in the extremities (peripheral neuropathy). There are three major forms of transthyretin amyloidosis, which are distinguished by the symptoms and the body systems they affect.

23andMe’s new report gives customers an opportunity to learn about their potential risk for TTR-related hereditary amyloidosis so that they can take action by speaking to their doctor to learn more about the risk and discuss appropriate next steps, which may include diagnostic testing.

The Genetic Health Risk report on TTR-related hereditary amyloidosis tests for three variants – V122I, V30M, and T60A. Each occur among people of different ethnicities.

The V122I variant is most common in African Americans and people of West African descent.

The V30M variant is most common among people of Portuguese, Northern Swedish, and Japanese descent but the variant carries different risk for each ethnicity.

The T60A variant is most common in people of Irish descent. It is also found in people of British descent.

23andMe Health + Ancestry Service customers who are on the most recent genotyping platforms can find the TTR-related hereditary amyloidosis test report in the Health Predisposition section of their account.

The publication of this report was supported in part by Alnylam Pharmaceuticals. 23andMe will also be running an awareness program in collaboration with Alnylam to provide 23andMe Health + Ancestry kits to first degree relatives of any 23andMe customer with an identified TTR variant.

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