Genetic testing for vEDS
Though signs and symptoms can suggest vEDS, a genetic test is recommended to confirm your diagnosis. Genetic testing may help you advocate for your medical needs and make more informed decisions.
What is genetic testing?
Put simply, a genetic test can spot genes that have changed or mutated. In vEDS, the genetic test looks at COL3A1, a gene that makes collagen.
Why should I get tested if I've already been diagnosed with vEDS?
The symptoms of vascular EDS can look similar to other rare conditions, such as Loeys-Dietz syndrome, Marfan syndrome, and familial arterial aneurysm and dissection syndromes. Genetic testing can help confirm whether or not you have vEDS so you can take steps to manage it.
What could my diagnosis mean for me and my family?
If a person with vEDS has a child, there is a 50% chance that they will pass the disease on to that child. This may mean there are other people in your family who have vEDS. If vEDS is confirmed through your genetic test, consider talking with your family members and suggesting that they speak with their doctors about testing as well. Confirming your vEDS diagnosis may also help you make important decisions about your future. Genetic counseling can help you understand your options if you'd like to start a family.
EACH CHILD BORN TO A PARENT WITH vEDS HAS A 50% CHANCE OF INHERITING THE DISEASE
What happens during genetic testing?
After your geneticist orders a test, a sample of your blood or saliva is collected and sent to the lab. The results are then sent to your geneticist, or, in some cases, directly to you.
How do I get a genetic test for vEDS?
A genetic test can be ordered by your physician or a geneticist. Talk to your doctor about the need for genetic testing or ask to be referred to a geneticist.