Familial Amyloidosis (hATTR) via the TTR Gene

Candidates for testing include individuals with a positive family history for amyloidosis and presenting with cardiac conduction blocks, cardiomyopathy, peripheral sensorimotor and/or motor neuropathy. Patients with tissue biopsies indicating amyloid deposits or anti-TTR antibodies are also good candidates for TTR gene sequencing (Sekijima. 2018. PubMed ID: 20301373).

Targeted testing for the c.148G>A (p.Val50Met) and c.424G>A (p.Val142Ile) founder variants is available. Testing may be appropriate for determining carrier status as pathogenic variants in the TTR gene exhibit incomplete penetrance. The reproductive partners of individuals who carry pathogenic variants in TTR are also candidates.

Who is this test for?	Candidates for testing include individuals with a positive family history for amyloidosis and presenting with cardiac conduction blocks, cardiomyopathy, peripheral sensorimotor and/or motor neuropathy. Patients with tissue biopsies indicating amyloid deposits or anti-TTR antibodies are also good candidates for TTR gene sequencing (Sekijima. 2018. PubMed ID: 20301373). Targeted testing for the c.148G>A (p.Val50Met) and c.424G>A (p.Val142Ile) founder variants is available. Testing may be appropriate for determining carrier status as pathogenic variants in the TTR gene exhibit incomplete penetrance. The reproductive partners of individuals who carry pathogenic variants in TTR are also candidates.
Method	Sanger Sequencing
Specimen(s)	Blood, Saliva, or Buccal Swab

Familial Amyloidosis (hATTR) via the TTR Gene

TTR

Order Options

Order Options

Explore related tests

Questions? We can help.