Ehlers Danlos / Marfan Syndrome & Related Conditions

There are a number of genetic conditions such as Ehlers Danlos syndrome and Marfan syndrome where affected people have hyperflexibility. They may show other symptoms such as heart or vision problems, skin problems with a tendency to bruise or recurrent dislocations of various joints.

Previously genetic testing for such conditions has been expensive and public health genetics clinic doctors, Clinical Geneticists, have usually made a diagnosis clinically by examining the clients and how they are affected. However, recently several factors have changed. These include many public genetics clinics are no longer accepting referrals for clients with a suspected hypermobility syndrome or greatly restricting access to obtain appointments. Also, the price of genetic testing has reduced significantly. Previously one gene, at a cost of over $1000, had to be tested at a time whereas many genes can be tested at the same time at a much lower price.

Insight Genomica now offers a genetic test for Ehlers Danlos syndrome, Marfan syndrome, and related disorders at a cost of $900. This panel, which is called the Connective Tissue Laxity panel examines and tests 18 genes all related to hypermobility. The genes test on this panel is ACTA2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, MYLK, PLOD1, PRKG1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, and TGFBR2.

At the first appointment, you will meet with a genetic counsellor at the cost of $200. If you decide to proceed with genetic testing, the results will be reviewed at a results appointment at a cost of $140. If a genetic change (mutation) is identified in an affected person, genetic testing of their other relatives can be arranged at a cost of $350 plus appointment costs.

People with hyper flexibility and other symptoms should speak to their GPs about the management of these symptoms. This may include having an eye check with an ophthalmologist, having a heart check with a cardiologist and seeing other specialists such as sports physicians, rheumatologists, and surgeons. If a gene change is identified, this may provide the opportunity to access greater information regarding the prognosis and likely medical problems that may occur in the future. It may also enable easier access to various doctors. It would also mean that this genetic result could be used with various preconception and prenatal options.

Call 1800 GENOME now to obtain more information or to arrange an appointment either in person in our rooms in Melbourne or via Skype / FaceTime for elsewhere in Australia.