MyAmyloidosisTeam

Can genetic testing detect TTR gene variants in amyloidosis?

Yes, genetic testing can detect TTR gene variants. This testing uses a blood sample to "read" or sequence the TTR gene and identify specific mutations that cause hereditary ATTR (hATTR) amyloidosis.

There are over 120 known TTR gene variants that can cause Show Full Answer

Can genetic testing detect TTR gene variants in amyloidosis?

Yes, genetic testing can detect TTR gene variants. This testing uses a blood sample to "read" or sequence the TTR gene and identify specific mutations that cause hereditary ATTR (hATTR) amyloidosis.

There are over 120 known TTR gene variants that can cause amyloidosis. Some of the most common include:

- V30M (most common, often found in people from Portugal, Spain, France, Sweden, and Japan)
- V122I (most often found in African Americans)
- T60A (most common in people of Irish descent and in the UK)

Genetic testing helps doctors determine:

- Whether you have hereditary ATTR amyloidosis versus wild-type ATTR
- Which specific mutation you carry
- How the disease may progress
- Which treatment options might work best
- Which family members should consider testing

If genetic testing finds a TTR mutation, it confirms hATTR amyloidosis. If no mutation is found but amyloid deposits are present, the diagnosis would be wild-type ATTR amyloidosis, which isn't inherited.

Your doctor can order this test through a blood draw, and results typically come back within a few weeks.

 AI-generated responses are not a substitute for medical advice. These services are not intended to diagnose, treat, or cure any condition or disease. Always ask your doctor about specific health concerns.

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