Test Entry - Detail

Acid Maltase Deficiency


General
  Clinical Use: For diagnosis of testing of patients with Pompe disease.
  Availability:
  Aliases/Synonyms: Acid Alpha Glucosidase (GAA),   Glycogen Storage Disease type II,   Pompe Disease,  
  Code: AMD
  Handling Instructions (to laboratory): Send sample chilled.
Sample must reach laboratory within 48 hours of collection.
  Hyperlink:
  Reference Interval:
Refer to report or laboratory


Collection Requirements
  Container: EDTA (LAVENDER),  
  Sample Type:
  Minimum Collection Volume: 4mL
  Collection Instructions: Collect sample Monday-Thursday only.
Do not collect sample prior to public holidays.
Non-medicare rebateable item. All patients except Public, VA and Pensioners must pay $388.00 upfront.


Processing Requirements
  Alternate Containers:
  Processing Instructions: If sample collection >48 hours, contact BGU to determine sample viability.
Check with BGU before adding this test to a previously collected sample.
Blood spot card to be prepared by PathWest QEII Trials Department.
  Minimum Assay Volume: 1mL
  Stability: 48 hours chilled
  Transport Instructions (to testing laboratory): Send dried blood spot card ambient.


Testing Locations
  Performed at:
Section Department Site Contact Phone
- Laboratory SA Pathology-Adelaide Women (08) 8161 7483


Last Updated : 11-06-2025 11:45