Diagnosis in Australia
Of the 13 subtypes, twelve have had their genetic basis found and therefore can be diagnosed via genetic testing. The most common type, Hypermobile EDS (hEDS), has yet to have a genetic basis found and is diagnosed via clinical diagnosis.
In Australia, genetic testing is done by a specialist doctor called a Geneticist. To see a geneticist one will need to obtain a specialist referral from their General Practitioner (GP) or treating specialists. A geneticist will review your and your family's medical history. They will also consider other disorders that they can test for that might account for the presenting symptoms. As hEDS doesn't yet require a genetic test some rheumatologists are trained in diagnosis. Not all rheumatologists are up-to-date with hEDS so check they are familiar with this disorder. As with a geneticist a referral can be done through any GP or specialists and found in both the public and private systems. With specialists referral when it is written by a GP the referral last 12months. When specialists are referring to another specialist only last 3months.
Geneticists are available in both the public and private systems in Australia. There is generally a waiting list to see a geneticist in the public system. One can elect to see a geneticist privately, where the waitlist is commonly shorter. However, the appointment and testing will all be out of pocket with some genetic testing costing a few thousand dollars. The different genes which identify the types have been listed here.
Due to there being no genetic test available for Hypermobile EDS the diagnosis is done by clinical examination in conjunction with your personal and family medical history. The EDS society has a PDF available here which covers their diagnostic criteria for HEDS. There is some debate over the diagnostic criteria and more work needs to be done. There are 3 criteria sets to go through including a demonstration of joint hypermobility and other aspects of HEDS.
The most common test to see Generalised Joint Hypermobility (GJH) which is part of most diagnostic criteria is the Beighton Scale. Historically this was used as the main diagnosis of Hypermobile EDS type where a score of 5/9 or more was required. The EDS society HEDS diagnosis checklist lists the requirements required to meet their first criterion using the Beighton scale. These movements and other "party tricks" are not recommended to do frequently as they can cause pain and damage to the joint. Caution is recommended and it's best only done with a health professional present.
HEDS Diagnostic Criteria Checklist - EDS Society
Beighton Scale: 1. Pull little finger back and beyond 90° (one point for each side), 2. Pull thumb back to touch forearm (on point for each side), 3. Bend elbow backwards beyond 10° (one point for each side), 4. Bend knee backwards beyond 10° (one point for each side), 5. Lie hands on the floor while keeping knees straight and bending at the waist.