A simple, non-invasive saliva test is used to collect a DNA sample from cells inside the mouth. This test is specifically for the hereditary form of amyloidosis, such as hereditary transthyretin (hATTR) amyloidosis.
How the genetic test works:
- A saliva or buccal (cheek swab) sample is sent to a lab to be analyzed.
- The lab looks for mutations in the TTRgene, which causes the TTR protein to misfold and form amyloid deposits.
- This genetic testing is recommended for people with a family history of hATTR or those who have had a biopsy confirming amyloidosis.
Early identification through genetic testing can help with disease management and monitoring.
