Formal diagnosis for Ehlers-Danlos syndrome: in weeks, not years

Everyone begins the same way: with the 90-minute Connective Tissue biio.markers assessment. This is the entry point — you can't book the diagnostic consultation directly. The assessment builds the complete picture first, and you're placed in the queue for your diagnostic consultation after it.

Take the GP referral guide. It sets out the referral wording, the pathology panel and the echocardiogram request, so your GP can organise all three correctly in one visit.

To "Rheumatologist, biio." You don't need to name a specific clinician — this is enough, and is useful given your rheumatologist is matched to your presentation.

If you have a referral to another rheumatology practice, simply call your GP's office and ask them to readdress the referral.

We can still get you through. If your GP won't provide the rheumatology referral, the pathology request or the echo request, one of our Nurse Practitioners can arrange these for you.

One thing to know: an echocardiogram is usually bulk-billed when the referral comes from a GP, but not when it comes from a Nurse Practitioner — so an NP-referred echo will have an out-of-pocket cost. Wherever possible, it's cheapest to get the echo referral from your own GP.

Book now, beginning with the Connective Tissue biio.markers Assessment.

It's completely normal to be working through your investigations while your place in the pathway is being arranged — you don't need every result in hand first. Get started, and forward your results as soon as they land.

Tell us they're pending. That still lets us plan around them, and in many cases we can hold a tentative consultation slot while results are on their way.

No. If you tell us who holds your results, our team will contact the provider directly to request them, with you copied in. You don't have to carry that back-and-forth.

Through the patient portal at my.biio.com.au/login. PDFs are preferred, and files can't be password-protected. The portal is more reliable than email for getting documents onto your file.

No, and it's a common mix-up.

An echocardiogram is an ultrasound of the heart's structure — it's what's used to assess the aortic root and help rule out vascular EDS. An ECG records the heart's electrical rhythm, and a Holter monitor records that rhythm over 24 hours. Neither an ECG nor a Holter replaces the echo. When asking your GP, ask specifically for a transthoracic echocardiogram.

Most people assessed for hEDS or HSD do not need genetic testing. It's used only where a result could change the diagnosis, family-risk discussion, surveillance or management — for example where screening flags a rarer subtype such as classical, vascular or kyphoscoliotic EDS, Marfan or Loeys-Dietz. Where it is needed, testing can be arranged in-house with our genetic counsellor.

Yes. biio. is digital-first and the pathway is available Australia-wide, with telehealth-supported assessment and consultation.

Much less time than the usual route. Once your biio.markers assessment is done and your prerequisites are in place, most people reach diagnostic clarity within weeks — not the 15–22 years that's typical in Australia.

Each step is billed separately, so you only pay for what you actually need. Medicare rebates apply to parts of the pathway, and private health or NDIS funding may apply depending on your cover. For current figures, see the fees section above.

Rebates are lodged by you, not by biio. Use the receipt we provide and claim through the Medicare app or your MyGov account linked to Medicare.

No. The pathway is built to find the right answer, not a predetermined one. The outcome may be hEDS, HSD, another hereditary connective tissue disorder, an alternative diagnosis, or clearly named uncertainty with a plan for what to review next.

HSD is not a lesser diagnosis. It means the full hEDS criteria weren't met, but your symptoms and their impact on your life are just as real — and your report and care recommendations reflect that.

Mostly not. Existing reports and on-file work are reused wherever they can be, so you won't be asked to repeat what's already been done without reason.

To "Rheumatologist, biio." A named clinician isn't required. We'll connect your patient with the most suitable fit based on their clinical features.

A referral with pathology and an echocardiogram already completed or underway lets the pathway move faster, because the diagnostic consultation isn't held waiting on baseline work.

• Pathology: the differential-exclusion panel set out in the GP guide (FBC with differential, LFTs, ESR and CRP, B12/folate/homocysteine, ANA, RF, plus TSH and iron studies).
• Echocardiogram: a resting transthoracic echo to assess the aortic root — usually bulk-billed on a GP referral.

A structured report with the diagnostic conclusion, the criteria met or not met, the clinical rationale, remaining uncertainties and recommended next steps — written to support ongoing care and to meet disability-support and insurance requirements.