Ehlers Danlos Syndrome Test – What You Really Need to Know

If you have spent years searching for answers about your bendy joints, unexplained pain and a body that just does not behave the way other people’s seem to, I want you to know something straight away: you are not imagining it, and you are not alone. As a physiotherapist who works with hypermobile people every single day, the question I hear most often is some version of, “Is there an Ehlers Danlos Syndrome test I can take to finally know for sure?”

It is a fair question, and the honest answer surprises a lot of people. For most types of Ehlers-Danlos Syndrome (EDS), yes, there is a test – a genetic one. But for the most common type, hypermobile EDS (hEDS), there is no genetic test at all. Instead, the “test” is a careful clinical assessment.

In this article I will walk you through exactly what that means, why it is the case, and how you can take the first step today.

What Ehlers-Danlos Syndrome actually is

Ehlers-Danlos Syndrome is not one single condition. It is a group of inherited connective tissue disorders that affect collagen – the protein that gives your skin, joints, ligaments, blood vessels and organs their strength and stretch. When collagen does not form properly, you can end up with overly flexible joints, fragile or stretchy skin, easy bruising and a long list of other symptoms.

There are 13 recognised types of EDS under the 2017 International Classification [1]. If you would like the full picture of each one, I have written a detailed guide on the EDS types, symptoms and causes.

The 13 EDS types and their genetic markers

Here is the key thing to understand. Twelve of the 13 EDS types have a confirmed genetic marker. That means a geneticist can order a blood test, look at your DNA, and confirm the diagnosis by finding the specific gene change responsible [2].

Below is a simplified overview of the 13 types and the genes linked to them:

• Classical EDS (cEDS) – COL5A1, COL5A2 (rarely COL1A1)
• Classical-like EDS (clEDS) – TNXB
• Cardiac-valvular EDS (cvEDS) – COL1A2
• Vascular EDS (vEDS) – COL3A1 (rarely COL1A1)
• Hypermobile EDS (hEDS) – no confirmed gene
• Arthrochalasia EDS (aEDS) – COL1A1, COL1A2
• Dermatosparaxis EDS (dEDS) – ADAMTS2
• Kyphoscoliotic EDS (kEDS) – PLOD1, FKBP14
• Brittle Cornea Syndrome (BCS) – ZNF469, PRDM5
• Spondylodysplastic EDS (spEDS) – B4GALT7, B3GALT6, SLC39A13
• Musculocontractural EDS (mcEDS) – CHST14, DSE
• Myopathic EDS (mEDS) – COL12A1
• Periodontal EDS (pEDS) – C1R, C1S

For these 12 types, genetic testing is genuinely useful. It can confirm a diagnosis, guide treatment and, in some cases, flag risks that need careful monitoring.

Why hEDS is the exception

Now here is the part that catches so many people out. Hypermobile EDS – the most common type by a huge margin – is the one type with no known genetic marker.

According to The Ehlers-Danlos Society, hEDS accounts for roughly 90% of all EDS cases and is thought to affect at least 1 in 3,100 to 5,000 people [3]. Newer population research from Wales suggests the combined prevalence of hEDS and Hypermobility Spectrum Disorder (HSD) may be closer to 1 in 500 [4] – which tells us this is far from rare, it is simply under-recognised.

Researchers have searched for years for a single gene that causes hEDS, and so far they have not found one [5]. That is why, for hEDS, there is no blood test, no DNA test and no biological marker that can confirm or rule it out.

I cannot stress this enough, because it is the source of so much confusion and heartache. People are often told, “Your genetic test came back normal, so you do not have EDS.” For hEDS, that statement is simply not correct. A normal genetic test does not rule out hEDS – because there is no genetic test for hEDS in the first place.

So what is the Ehlers-Danlos Syndrome test for hEDS?

If hEDS cannot be found in your blood, how on earth is it diagnosed? The answer is that the “test” is a clinical assessment – a structured, hands-on evaluation done by a knowledgeable clinician using internationally agreed criteria [6].

There is no needle and no laboratory. Instead, your clinician looks at your whole picture: how your joints move, your symptoms, your medical history and your family history. This is exactly how I approach it in my own practice.

The current standard is the 2017 International Diagnostic Criteria for hEDS. To be diagnosed, you must meet all three of these criteria at the same time:

1. Generalised joint hypermobility, usually measured with the Beighton Score.
2. A specific combination of features – namely systemic signs of a connective tissue disorder, a positive family history, or musculoskeletal complications.
3. The exclusion of other conditions that could explain your symptoms.

You can read my full step-by-step explanation in my guide to diagnosing hEDS, and a broader overview of how EDS is diagnosed across all types.

The Beighton Score

The Beighton Score is a simple nine-point scale that measures how far certain joints move. Your clinician checks whether you can:

• Bend your little finger backwards beyond 90 degrees (one point each hand)
• Bend your thumb back to touch your forearm (one point each hand)
• Hyperextend your elbows (one point each arm)
• Hyperextend your knees (one point each leg)
• Place your palms flat on the floor with straight legs (one point)

A higher score points towards generalised joint hypermobility. The cut-offs vary with age, which is why a clinician’s interpretation matters. As a rough guide, a score of 5 or more for adults aged 18 to 50, and 4 or more for adults over 50, suggests generalised joint hypermobility.

The Brighton Criteria and the Five-Part Questionnaire

You may also come across the Brighton Criteria – an older framework that combined the Beighton Score with other symptoms to diagnose what used to be called Joint Hypermobility Syndrome. It has largely been replaced by the 2017 hEDS criteria.

Another useful tool is the five-part questionnaire developed by Hakim and Grahame [7]. It is a quick five-question self-report screen that picks up past or present hypermobility, even when your joints have stiffened with age. In the original 2003 study, a cut-off of two positive answers gave a sensitivity and specificity of 84% and 89% respectively – which is why it remains a trusted screening shortcut around the world.

Why genetic testing is not required for hEDS

Let me be really clear about this, because I do not want you spending money or hope on the wrong thing.

You do not need a genetic test to be diagnosed with hEDS. Genetic testing is neither sufficient nor required for an hEDS diagnosis, because there is no gene to test for.

That said, your doctor may still order genetic testing – not to confirm hEDS, but to rule out the other 12 types (including vascular EDS) and other connective tissue conditions such as Marfan syndrome or Loeys-Dietz syndrome. This is an important safety step, especially where there are warning signs for the rarer, more serious types. So if your clinician suggests genetic testing, it is usually to exclude something else, not to find hEDS itself.

The diagnostic delay – and why it does not have to be this way

One of the things that makes me most determined in this work is how long people wait for answers. Australian research by Trudgian and Flood (PLOS ONE, 2024) found many participants reported symptoms for more than 15 years before diagnosis [8]. A more recent 2025 global study found an average of 22 years to diagnosis for hEDS and 17.5 years for Hypermobility Spectrum Disorder [9]. Much of this delay comes down to how few clinicians are EDS and hypermobility aware. For more information please refer to Why Your Hypermobility Matters: The Silent Risks of Undiagnosed Symptomatic Hypermobility.

That delay is not your fault. It reflects a gap in awareness across the health system – and it is exactly the gap we are working to close.

Take the test! The HHC Self-Screening Tool

This is where I would love you to take a practical first step. We have created the HHC Self-Screening Tool for Hypermobility (SSTH) – an evidence-based online tool you can complete in about 15 minutes from home.

It will not give you a diagnosis – no online tool can – but it will help you understand whether your symptoms suggest you might benefit from professional support, and it gives you a clear summary you can take to your GP or allied health professional.

Take the Test today and take your power back. You can use the result to start a focused, informed conversation rather than another frustrating appointment that goes nowhere.

The “Road to 2026” for HSD and hEDS: Change is coming

There is genuine reason for hope. The Ehlers-Danlos Society is leading a major project – often called the “Road to 2026” or “Path to 2026” – to revise the way EDS and Hypermobility Spectrum Disorders are classified and diagnosed [10].

For the first time since 2017, the diagnostic criteria for all types of EDS and HSD will be updated. The Society has confirmed the new framework is scheduled for publication on 1 December 2026, with best-practice care and management pathways to follow in March 2027. Once published, the new framework will replace the previous diagnostic criteria.

I want to reassure you that at HHC we are right across these changes. As soon as the new criteria are released, we will update our resources, our screening tool and our guidance so that you always have the most current, evidence-based information.

Further reading – The Ehlers-Danlos Society: The Road to 2026 – https://www.ehlers-danlos.com/road-to-2026/

You can get answers

If there is one message I want you to leave with, it is this: you can get answers, even without a genetic test. hEDS is real, it is common, and it is diagnosable through careful clinical assessment.

You do not have to keep wondering. Start with the self-screening tool, take your summary to a knowledgeable clinician, and let us help you move forward.

References

1. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. American Journal of Medical Genetics Part C. 2017;175(1):8-26. https://doi.org/10.1002/ajmg.c.31552
2. The Ehlers-Danlos Society. Genetics and Inheritance of EDS and HSD. https://www.ehlers-danlos.com/genetics-and-inheritance/
3. The Ehlers-Danlos Society. Hypermobile EDS (hEDS). https://www.ehlers-danlos.com/what-is-eds/hypermobile-ehlers-danlos-syndrome-heds/
4. Demmler JC, Atkinson MD, Reinhold EJ, et al. Diagnosed prevalence of Ehlers-Danlos syndrome and joint hypermobility syndrome in Wales, UK: a national electronic cohort study. BMJ Open. 2019;9(11):e031365. https://bmjopen.bmj.com/content/9/11/e031365
5. Tinkle B, Castori M, Berglund B, et al. Hypermobile Ehlers-Danlos syndrome: Clinical description and natural history. American Journal of Medical Genetics Part C. 2017;175(1):48-69. https://doi.org/10.1002/ajmg.c.31538
6. Ehlers-Danlos Syndrome. StatPearls. NCBI Bookshelf, National Library of Medicine. https://www.ncbi.nlm.nih.gov/books/NBK549814/
7. Hakim AJ, Grahame R. A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain. International Journal of Clinical Practice. 2003;57(3):163-166.
8. Trudgian R, Flood T. An exploration of the journey to diagnosis of Ehlers-Danlos Syndrome (EDS) for women living in Australia. PLOS ONE. 2024;19(7):e0307574. https://doi.org/10.1371/journal.pone.0307574
9. Daylor V, Griggs M, Weintraub A, et al. Defining the Chronic Complexities of hEDS and HSD: A Global Survey of Diagnostic Challenges, Life-Long Comorbidities, and Unmet Needs. Journal of Clinical Medicine. 2025;14(16):5636. https://doi.org/10.3390/jcm14165636
10. The Ehlers-Danlos Society. A Major Update Is Coming to EDS and HSD Diagnosis (Road to 2026). https://www.ehlers-danlos.com/new-global-diagnostic-criteria-2026/