A direct laboratory method, based in blood analysis, is available to determine the status of an individual as a carrier (positive for mutations in the TTR gene) or non-carrier (negative for mutations in the TTR gene) of paramyloidosis.
The diagnosis is realized at the Center of Health Science, Federal University of Rio de Janeiro. The diagnosis can be made with a small blood sample, obtained from the simple collection of a swab from oral mucosa.
Since 2008, the diagnosis has been continuously performed, and since then we have described 5 novel mutations in Brazil, as well as a mutation that had not been described in the world population. These data are extremely important because until then it was thought that the only existing mutation in Brazil would be the Val30Met one.
Individuals who exhibit characteristic symptoms of FAP must go to the University Hospital Clementino Fraga Filho to be evaluated by the group of Dr. Marcia Cruz to be submitted to the diagnosis.