Is there a genetic test for ALS?

The genetic diagnosis of ALS is complex and requires consideration of the
family constellation. Genetic changes are to be expected in patients with ALS,
if other people in the family already have ALS or a special
dementia (frontotemporal dementia, FTD). In this situation,
molecular genetic tests (“genetic tests”) are available.

A family history of ALS is described in around 5% of all people with ALS. In
this smaller group of patients, genetic testing by specialists in human genetics (in
human genetics institutes and specialist practices) is possible. The results of
molecular genetic diagnostics, in particular the positive detection of a genetic
change (mutation), can have considerable diagnostic, prognostic and psychological
implications, so that well-founded counseling by
a specialist in human genetics is required before any genetic diagnostics.

Genetic testing without evidence of another affected family member (in the same or previous generation) only makes sense with specific scientific questions as part of research projects. The evaluation of genetic diagnostics is subject to changes in scientific progress. It is conceivable that genetic drugs will become available in the future, so that the guidelines for carrying out genetic diagnostics will change.