What is the pre-symptomatic test?

Genetic counselling for relatives – Predictive diagnosis

Diagnostic prédictif

A family member has been affected by hereditary amyloidosis, but another relative is not showing any symptoms. This is where the pre-symptomatic test comes in. The pre-symptomatic test is for siblings, adult children and parents of people who have been affected by hereditary amyloidosis and have a genetic mutation. The pre-symptomatic test is also called the predictive test and tells the relative if they are carrying the same mutation as their family member. Carriers are at risk of developing the same illness later on and passing it on to their children. Carriers might never even develop the illness. Identifying this gene helps carriers put in place appropriate medical monitoring and early treatment. The genetic test is not obligatory and each person’s motivations are taken into account. It has personal and familial consequences which cannot be ignored. For this reason, it is important that patients and relatives ask as many questions as needed to make this decision. This is why it is called ‘genetic counselling’.