Testing & Diagnosis
Pompe disease can have symptoms similar to other health conditions, thus, it is important to have a reliable “diagnostic” test done.
Many doctors won’t have diagnosed someone with Pompe disease before and are therefore not very familiar with it. The diagnosis of Pompe disease is based on not only the clinical symptoms being present, but also a specialised diagnostic biochemical and/or genetic test.
If a diagnostic test shows that a person has Pompe disease, there may be lots more questions and concerns about what this means and how it will affect that person and/or their family. The information below will provide a summary of some of the questions you may have when seeking a diagnosis and afterwards.
How is Pompe Disease Diagnosed?
Dry Blood Spot Test (DBS)
Professor John Hopwood and his team, from the Lysosomal Diseases Research Unit, at the Women’s and Children’s Hospital in Adelaide, Australia, developed a diagnostic biochemical test that uses a dried blood spot.
A drop of blood is collected from a finger prick and placed on a paper card. This card can then be posted to the diagnostic laboratory where the test measures the amount of GAA (acid alpha-glucosidase) enzyme present.
Your local GP or specialist can order this test by contacting Sanofi and requesting a DBS kit.
Genetic Test
A genetic test involves examining DNA from a painless mouth swab or saliva sample to identify disease-causing variations in the acid alpha-glucosidase (GAA) gene. There are a number of options in Australia to obtain genetic testing including public genetic clinics or private genetic testing companies.
The Australian Pompe Association strongly recommend you consult with a specialist or genetic counsellor for advice on genetic testing.
These tests may not be covered by Medicare.
If you or a family member have been diagnosed with Pompe Disease please contact a member of the Australian Pompe Association. There are members all around Australia of varied age groups that understand what you are going through and can offer valuable information and tremendous support to you and your family.
Treatment is available and is government funded in Australia for all Australians diagnosed with Pompe disease, subject to treatment guidelines.
“We may be rare, but together we are strong”
IMPORTANT: This information is intended to provide general information in regard to the matter covered. It is provided as a public service by the Australian Pompe Association. Medicine is constantly changing and human error and changes in practice make it impossible to certify the accuracy of such complex material. Confirmation of this information from your doctor or medical practitioner is required.