Genetic Counselling

Genetic Testing for EDS

There are 13 types of EDS that can be diagnosed by genetic analysis, including classical EDS, vascular EDS and other more rare forms. Scientists are yet to isolate the genes involved in hypermobile EDS (hEDS) and hypermobility spectrum disorder, and thus, a clinical diagnosis is required instead.

In the event that your genetic tests are negative for other forms of EDS, our specially trained physiotherapists offer diagnostic assessments aligned with the official Ehlers Danlos Society Diagnostic Criteria 2017. This assessment can be conducted in-person or online via our digital platform, wherever you may be in Australia.

Who should consider Genetic Counselling?

• Those with suspected or diagnosed EDS
• Family members of those with EDS
• Those planning for pregnancy with a family history of EDS
• Individuals seeking clarity on unexplained symptoms

How It Works

1. ‍Initial assessment: Detailed analysis of your personal and family health backgrounds, symptoms and genetic risk factors.
2. ‍Genetic testing: After customising your gene panel, you'll be sent an at-home test kit, collect your sample and send it off for testing.
3. ‍Interpreting results: Guided by your genetic counsellor, you'll interpret your results and understand their significance and potential impacts—for yourself and your family members. EDS gene panels typically cost between $600 and $700. If you test positive for a collagen variant, five of your family members may then be tested complete free of charge.
4. ‍Ongoing support: You and your family will receive unwavering support at every step and exclusive discounts to our EDS and hypermobility care pathway.

The Role of Your Genetic Counsellor

Your Genetic Counsellor plays a core role throughout your diagnostic journey. They serve as your primary guide, offering expert knowledge and compassionate support. Your counsellor will thoroughly review your medical history, discuss your family's health background, and explain the complexities of EDS genetics in clear, understandable terms. They'll help you navigate the decision to undergo genetic testing, explaining the potential outcomes and their implications for you and your family.

If testing is pursued, they'll interpret the results, helping you understand their significance and how they may impact your health management. Throughout this process, your Genetic Counsellor will provide emotional support, address your concerns, and work closely with other healthcare professionals to ensure you receive comprehensive care tailored to your specific needs.

Why Choose Biio for Your Assessment:

• Extensive experience with complex hypermobility conditions
• Systematic approach using current diagnostic criteria
• Access to multidisciplinary care if needed
• Clear communication and ongoing support
• Understanding of the emotional journey to diagnosis