Testing & Diagnosis

Pompe Disease – Diagnosis

Diagnosing Pompe disease has become much simpler than it used to be. Below are 2 simple ways to get a diagnosis. Either a Dry Blood Spot Test (DBS) or a Genetic Test.

Dry Blood Spot Test-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 test that uses a dried blood spot. This uses a drop of blood – collected from a finger prick – and dried on a paper card. This test measures the amount of enzyme present. This card can then be posted to the diagnostic laboratory and is now in common use throughout the country.

Should you need assistance with accessing tests or have any questions please call a free nursing service 1800 369 963

Your local GP or specialist can order this test by contacting Sanofi Genzyme and requesting a DBS kit.

Some charges may apply that are not covered by Medicare.


Click here to enquire/order DBS test

Genetic Testing

There are a couple of options listed below for genetic testing. These are private companies and as such, it is up to each individual to decide if this option is right for them.  These tests are not covered by medicare.

Details below are just for information and are provided by the companies listed.

The test involves examining DNA from a painless mouth swab to identify disease-causing variations.


Invitae is a CLIA-certified and CAP-accredited genetic testing company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people.

We strive to make high-quality genetic testing affordable and accessible.
The Invitae Pompe Disease Test analyzes the GAA gene, which is the only gene known to cause Pompe disease (also called glycogen storage disease, type II [GSD II]).

The Lysosomal Storage Diseases (LSDs) genetic testing program provides access to sponsored, no-charge genetic testing and counseling for people suspected of having an LSD.

To qualify for no-charge testing through the Invitae Detect LSDs program, individuals in eligible countries must be suspected of having an LSD based on at least one of the following:

  • Clinical features
  • Suspicion of, or known diagnosis of, a specific lysosomal storage disease
  • Family history related to LSDs
  • Lab result suggestive of LSDs
  • Presumptive positive newborn screening


Click here for more information


The test looks for variations in the GAA gene which can cause Pompe disease. It identifies people who are carriers of DNA variations but not affected by Pompe disease. It is a Pompe disease carrier screening test.
The test looks at the GAA gene only. The test does not examine other genes. It does not examine other genetic conditions within Australia.

Click here for more information

Click here to order test

When ordering test enter POMPE29 at checkout to get your test for $270 AUS

The ‘infantile’ form of Pompe disease may progress very quickly and without treatment, these babies may not live longer than twelve months. Treatment is available and is government funded in Australia for all Australians diagnosed with Pompe disease, subject to treatment guidelines.

If you 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.

“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 humane 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.