Genetic Test for Ehlers Danlos Syndrome: What It Can Show

A genetic test for Ehlers Danlos syndrome can give a clear answer for some people and none at all for others. Which one applies to you depends on the type. This page explains the difference in plain words, so you can go to your appointment with better questions.

Which types can a genetic test confirm?

Ehlers Danlos syndrome, or EDS, is a group of inherited conditions that affect connective tissue. That is the body's glue, found in joints, skin and blood vessels. Our page on what is EDS covers the basics.

The current list was set in 2017. It includes 13 types of EDS, and the Ehlers Danlos Society says that for every type except hypermobile EDS, genes have been linked to the condition (The Ehlers Danlos Society).

For those rarer types, a gene change can often be found in a blood sample. Two examples are vascular EDS, linked to a gene called COL3A1, and classical EDS, linked mainly to COL5A1 and COL5A2. You do not need to remember the names. A clinical geneticist, a doctor who works with inherited conditions, will know which genes to look at in your case.

When a specialist suspects one of these types, a genetic test is usually how they confirm it.

Why there is no genetic test for hypermobile EDS

Hypermobile EDS, called hEDS, is the most common type. Here the picture is different. The Ehlers Danlos Society states that there is currently no genetic test available to diagnose hEDS, because the genetic cause has not yet been identified. The NHS agrees that no test can confirm hEDS.

So a test result cannot rule hEDS in or out. A normal result from a genetic panel, which is a test that checks many genes at once, does not mean you do not have it. It may mean the panel was looking at other types.

How hEDS is diagnosed instead

A doctor makes the diagnosis from the full picture, using the 2017 criteria. In simple terms, they look at:

• how far your joints move, often with a short scored check (our Beighton scale guide explains it)
• other features of the body, such as soft or slightly stretchy skin
• your family history
• whether something else could explain what you feel

That last step matters. Many conditions can look similar, so ruling them out is part of the work. A rheumatologist is often the specialist who does this, and your GP is the usual first step.

When a specialist might suggest a test

Genetic testing is not a routine first step. It is usually arranged by a specialist after a referral. They may suggest one when something points to a rarer type. That could be fragile skin that tears, repeated serious injuries, or a family member with a blood vessel or organ problem.

If this sounds like you, say so clearly at your appointment. Bring a short list of your symptoms and what you know about relatives. You can read more about the signs in our guide to EDS symptoms.

If you are wondering whether your joints are simply flexible, our comparison of hypermobility vs hEDS may help. Many flexible people have no syndrome.

A test result, or the lack of one, is one piece of information. It does not change the fact that your symptoms are real.

Movement does not wait for a label

Whether you are waiting for a test, have a diagnosis or have neither, the aim of gentle movement for a hypermobile body is the same. It is about stability, control and comfort, not stretching further. Small, slow movements that you can feel are a good fit.

The Feldenkrais Method® is built on noticing, not pushing. A Feldenkrais® lesson is not a treatment for EDS and sits beside your medical care. Feldy puts these lessons in your ear for home use. For a first step, try our exercises for hypermobility. For more background, read the Feldypedia entry on hypermobility and joint instability. Stop at any moment if something hurts.

Find where to start

Not every kind of movement suits loose joints. A few short questions can lead you to a gentler place to begin.

Not sure which movement method fits you? Take the 60 second Movement Match quiz for a gentle method matched to how you like to learn, then share the result with your care team.

Common Questions about genetic test for Ehlers Danlos syndrome (FAQ)

Can a genetic test tell me if I have EDS?

Sometimes. For most of the rarer types, a known gene change can be found with a genetic test, usually a blood sample. For hypermobile EDS, the most common type, there is no genetic test, so a doctor decides from your history and an examination.

Why is there no genetic test for hypermobile EDS?

Researchers have not yet found the gene or genes behind it. Until they do, a test has nothing to look for. That is why hEDS is diagnosed by a doctor using a checklist, not by a lab result.

Is Ehlers Danlos syndrome genetic?

Yes, EDS is genetic, and it often runs in families. Sometimes it shows up in a family for the first time, and not everyone with an affected relative will have it. A clinical geneticist can explain what the pattern in your family may mean.

Who arranges a genetic test for EDS?

Usually a specialist, such as a clinical geneticist or a rheumatologist, after your GP refers you. They tend to suggest one when your signs or family history point to a rarer type, for example vascular or classical EDS.

Should I get tested if I am only very bendy?

Being very bendy is common and does not on its own call for a genetic test. If you also have frequent dislocations, fragile skin, or relatives with serious blood vessel or organ problems, tell your GP. They will decide whether a referral makes sense.

How is a genetic test different from the hEDS checklist?

A genetic test looks for a known gene change in your blood. The hEDS checklist, from the 2017 criteria, asks a doctor to look at your joints, other body features and family history, and to rule out other conditions. They answer different questions for different types.

When should I see a doctor about possible EDS?

Book a GP visit if joints slip out of place, skin tears or bruises with little force, pain keeps going, or relatives share these signs. If vascular EDS is known or suspected, sudden severe pain in the chest, belly or head means calling emergency services.