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Testing & Diagnosis

A diagnosis often comes with mixed emotions ranging from a huge sense of relief from the worry, anxiety and frustration associated with searching for a diagnosis for yourself, your child or family member to feelings of being overwhelmed not knowing much about Fabry Disease and the impact on other members within your immediate and extended family. You are not alone and Fabry Australia provides mutual support sharing experiences and information on living with Fabry Disease.

You may have many questions when first diagnosed with Fabry Disease ranging from who discovered Fabry Disease?; What is the incidence?; What are the symptoms?; Are there treatments?; How is the disease managed?; What impact will it have on my life? What research is being done in Australia?

The Fabry Australia website is a good place to start reading, exploring and receiving answers to some of your questions. You can also write down your questions and phone Fabry Australia or take them to your next Fabry clinic appointment. The Fabry clinicians and staff are only too happy to help and answer any questions you may have.

A diagnosis is very useful for Doctors in starting symptom management, reducing the risk of further problems happening as well as early identification of other family members who may be affected. Initially, a combination of the signs and symptoms may lead your doctor to think you may have Fabry disease. 

Anyone who is thought to have Fabry disease can have the diagnosis confirmed through laboratory testing. This test, called an enzyme assay measures the amount of a-galactosidase enzyme activity in the blood. 

In males this can be done by taking a blood sample which is then tested to check the level of the a-galactosidase enzyme. If the level of the enzyme is very low a diagnosis of Fabry disease can be made. This test can also be used to confirm the diagnosis of Fabry disease in females, although a laboratory genetic test in which DNA is analysed is a more effective test for confirming the diagnosis in women especially where there is a family history of Fabry disease.

Prenatal diagnosis is possible by measuring the a-galactosidase activity in tissue or fluid taken from around the foetus. This test may be offered to expectant mothers who have Fabry disease. Specialist support and advice are available for such testing.

Family Testing

If you or a family member has been diagnosed, others in your immediate and extended family may also have Fabry disease. Fabry Disease is a genetic inherited condition and can affect more than one person in the family. It is important to speak with your family members about your diagnosis and encourage them to be tested. The tests which measure alpha-galactosidase enzyme activity, lyso-ceramide trihexoside and for known familial mutation testing can be ordered using a pthology referal form by your Doctor. It is also very helpful and advisable to consider Genetic Counselling when family planning or first diagnosed to understand the inheritance pattern of Fabry Disease. There are Genetic Counsellors throughout the country and the Fabry Clinics can refer you to a Genetic Counsellor to support you and your family with your new diagnosis.

Fabry Australia has an 'Understanding Fabry Disease' Fact Sheet booklet to help talk with your family about Fabry Disease.

Testing Costs 

Any clinician can order tests to diagnose Fabry Disease. If the test is completed within the Fabry Clinic setting there is no cost to the patient. If the test is ordered privately there are costs associated with the test. Fabry Clinics have access to two Dry Blood Spot testing kits which have been provided by two pharmaceutical companies. One test is completed within Australia and the other is sent to Germany. Both are free to the Fabry Clinician and to the patient. To understand more about these tests please direct your questions to your State Fabry Clinic. If you have a clinician outside of the clinic looking to conduct a test, please refer them to the Fabry Clinic for further information.