Ehlers-Danlos Syndrome Genetic Test
If you've spent years seeking answers for hypermobile joints, fragile skin, chronic pain, or unexplained injuries, genetic testing can confirm whether Ehlers-Danlos syndrome is the cause.
This next-generation sequencing (NGS) panel tests for genetic variants associated with Ehlers-Danlos syndrome (EDS), a group of inherited connective tissue disorders affecting the skin, joints, and blood vessels.
EDS is often suspected when someone has unusually flexible joints, stretchy or fragile skin, and a history of joint dislocations or chronic pain. A genetic diagnosis can confirm which type of EDS is present and guide medical management.
The panel screens for genes associated with:
- • Classical EDS (COL5A1, COL5A2)
- • Vascular EDS (COL3A1) - the most serious form requiring specific surveillance
- • Kyphoscoliotic, arthrochalasia, and other rare subtypes
- • Hypermobile EDS - primarily a clinical diagnosis; genetic testing helps exclude other types
Who should consider this test:
- • Adults or children with suspected EDS based on clinical features
- • Family members of someone with a confirmed EDS diagnosis
- • Those seeking confirmation after years of unexplained symptoms
- • Patients referred by rheumatology, genetics, or pain specialists
Why test at Medical Express Clinic: We work with UKAS-accredited genetics laboratories. Genetic counselling is recommended before and after testing. A positive result can inform treatment, surveillance for complications (particularly with vascular EDS), and family planning decisions.
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Dr Penelope Sheehan
Health Screening, Paediatrics and Menopause • GMC 6056535
This page was medically reviewed on 2 July 2026.
"Specialising in women's health, hormonal balance, and menopause management within screening contexts. Dr Sheehan also has dedicated weight-loss management training and experience in safe GLP1 agonist prescribing alongside a special interest in paediatric assessments and consultations. Her compassionate and understanding approach is particularly valued by our patients."
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Ehlers-Danlos Syndrome Genetic Test
£1,375Common questions
Q.What if the test is negative but I still have symptoms?
Hypermobile EDS, the most common type, is diagnosed clinically rather than genetically. A negative genetic test doesn't exclude EDS; it helps rule out rarer forms.
Q.Is genetic counselling included?
We recommend genetic counselling and can refer you. This is particularly important for understanding implications for family members.
Q.Can I claim this on insurance?
Some insurers cover genetic testing with a referral letter. We can provide documentation to support your claim.
