EDTA whole blood
Sample needs to arrive in the laboratory before 14.00 on day of collection, as it must be received at the referral laboratory and processed within 24 h of sample collection. Do not send on a Friday, Monday – Thursday ONLY. Any samples received on a Friday will be rejected.
A comment will be issued with the report.
Deficiencies in specific lysosomal enzymes result in disorders collectively known as the mucopolysaccharidoses. These enzymes are involved in the degradation of dermatan sulphate, heparan sulphate and keratan sulphate.
Incompletely metabolised mucopolysaccharides accumulate in tissues and are excreted in the urine.
The white cell enzyme screen incorporates a 17-panel screen for the following conditions:
Cannot be added on to an existing requestSpecimen Labelling Procedure