Diagnosis

In New Zealand we don’t have a diagnostic laboratory that diagnoses Pompe Disease.  We need to send our dried blood spot (DBS) cards to Australia.

A diagnostic test that uses blood – collected from a finger prick – and dried on a paper card is in common use throughout the world.  This is the simplest and most reliable way to diagnose Pompe disease.  This card can then be posted to the diagnostic laboratory below.

Muscle biopsies are often inconclusive and are certainly not reliable.  It is NOT necessary to have a muscle biopsy to be diagnosed.   So if your doctor is trying to tell you that you need one, please advise them that you do not.

Full information about how to do the testing is available here   <— Please give this link to your doctor!

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

Women’s and Children’s Hospital
Adelaide (SA Pathology Main Laboratory)
Frome Rd, Adelaide SA 5000

Ph: 08 8222 3000
Fax: 08 8222 3538
Result enquiries: 08 8222 3000

Open: Mon-Fri 07.00am-07.00pm; Sat 07:00am – 12noon

There may be a cost to process the samples.  However, some DHBs do cover the cost.  Enquire with your doctor to see if they do.  Speak to us if they are reluctant.