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.