- This topic has 1 reply, 2 voices, and was last updated 2 weeks, 4 days ago by
.
-
Posts
-
-
-
A negative genetic test means that the laboratory did not find a reportable disease-causing change in the genes examined. It does not always mean that the person does not have Marfan syndrome. Genetic tests can identify many important changes, but they may not detect every possible variant. The result also depends on which genes and types of changes the test was designed to assess.
Doctors interpret the result alongside the person’s physical features, heart and eye examinations, and family history. Marfan syndrome can sometimes be diagnosed using clinical criteria even when testing does not identify a genetic cause. A clinical geneticist may review whether the test was suitable or whether a broader panel or another kind of test could provide more information.
Most importantly, a negative result does not remove the need to care for a medical finding. If someone has a widened aorta, their cardiologist should continue to advise on monitoring and treatment based on the scans and overall health. The doctor can also explain what the result means for relatives.
-
- You must be logged in to reply to this topic.