Test Background The specialist laboratories within ICHNT can test for a number of rarer enzyme-opathies as listed below, deficiencies of: • aldolase • hexokinase • glucose phosphate isomerase • glutathione • glutathione stability • low substrate pyruvate kinase • phosphofructokinase • glutathione peroxidase • methaemoglobin reductase. A variety of additional tests are available for the investigation of red cell disorders, including auto-haemolysis screen and osmotic fragility.
Clinical Indications Specialist red cell studies can be performed as part of the investigation of haemolytic anaemia. Specific tests are normally undertaken on the advice of the Consultant Haematologist.
Sample Required 4 mL EDTA (lavender top) adults0.5 mL EDTA (lavender top) paediatricsPlease note: a lithium heparin sample (green top) is required for osmotic fragility.
Sample Volume 0.5 mL adult tube0.2 mL paediatric tube