Genetic Testing

Signs and symptoms may suggest vEDS, but a genetic test is the only way to confirm a diagnosis.

Types of genetic tests

The type of test your doctor may order for you depends on your medical and family history.

Genetic Sequencing

A more comprehensive panel may be ordered when many different genes cause the same or similar medical condition. For example, vEDS is monogenetic, meaning it is caused by a mutation in a single gene (COL3A1). Your doctor may have different reasons for ordering a more comprehensive genetic panel, including if a single-gene test fails to confirm a diagnosis.

Cardiovascular Panel

Because the symptoms of vEDS can look similar to other rare aorticConcerning the main artery that carries blood from the heart to be distributed by branch arteries through the body. conditions, your doctor may order a cardiovascular panel. A cardiovascular panel can include COL3A1 and will analyze the genes associated with rare aortic conditions and related connective tissue disorders, such as Loeys-Dietz syndrome, Marfan syndrome, and vEDS.

Single-gene test

Single-gene testing is designed to detect the specific mutation(s) or variant(s) of one specific gene (eg, COL3A1). If you are an immediate family member of someone who has been genetically confirmed to have vEDS, a single-gene COL3A1 test may be the most efficient and cost-effective means of confirming a vEDS diagnosis.

What could my diagnosis mean for me and my family?

Each child born to a parent with vEDS has a 50% chance of inheriting the disease

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 to their doctors about testing as well.

Why should I get tested if I’ve already been diagnosed with vEDS?

The symptoms of vascular EDS can look similar to other rare aortic 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 happens during genetic testing?

A medical geneticist, doctor, or nurse practitioner may order you a test. Then, a sample such as saliva or blood is collected and sent to the lab. Depending on who you order your test from, the results are then sent to your doctor, geneticist, or even 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.

Labs that offer COL3A1  genetic testing for vEDS

We believe everyone should have access to genetic testing for vEDS. There are a number of private and public labs that offer COL3A1 genetic testing for vEDS. Your doctor will help you find the right lab for your genetic testing needs, and will ultimately be the one to order a test for you.

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