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Genetic testing for connective tissue conditions provides clarity when symptoms overlap, family history suggests inheritance, or a rarer EDS subtype is suspected. While 13 types of Ehlers-Danlos syndrome can be confirmed through genetic analysis—including classical and vascular EDS—the genes responsible for hypermobile EDS (hEDS) and hypermobility spectrum disorder (HSD) have not yet been identified. This means hEDS remains a clinical diagnosis guided by the 2017 International Diagnostic Criteria.
Our approach recognises that genetic information is rarely just medical—it’s personal, familial, and often emotional. We combine advanced gene panel testing with specialised genetic counselling to ensure your results are interpreted within the context of your symptoms, history, and broader care pathway.
If genetic testing does not identify a pathogenic variant, our team offers comprehensive hEDS diagnostic assessments conducted by clinicians trained in the official 2017 criteria. Assessments are available in-person or via telehealth across Australia.
Genetic clarity isn’t about lab results alone—it’s about understanding what those results mean for your health, your family, and your future decisions.
Your initial consultation includes detailed review of your personal medical history, family history, and symptom patterns. We assess inheritance risks, explore whether genetic testing is clinically appropriate, and explain potential outcomes so you can make an informed decision.
If testing is indicated, we customise an EDS gene panel aligned with your presentation. You’ll receive an at-home collection kit with clear instructions for sample return. EDS gene panels typically cost between $600–$700.
When results return, your genetic counsellor explains what they mean—and what they don’t mean. We discuss implications for diagnosis, surveillance, pregnancy planning, and family member testing. If a pathogenic collagen variant is identified, up to five family members may be eligible for complimentary follow-up testing.
Your results are integrated into your broader Biio care plan. Where appropriate, we coordinate with physiotherapy, rheumatology, integrative medicine, cardiology referral pathways to ensure your care is cohesive rather than fragmented.
Genetic information evolves. We remain available to support follow-up questions, family discussions, and future planning decisions as your circumstances change.