BOP/ WHK/ROT: Mon- Thurs collection only. Requests must be at lab before 4pm; TPO: Mon - Wed collection only. Must be at lab before 9am.
Micro collects are unsuitable
DO NOT centrifuge; whole blood required
DO NOT refrigerate/freeze
DO NOT share sample; dedicated tubes required
Whole blood must be transported at room temperature
From LabPlus website:
White cell enzymes are used to diagnose children with suspected lysosomal disease. In general the cost for a screen is only slightly more than the cost of one particular enzyme. By ordering 'white cell enzymes' the following enzymes (diseases) are analysed:
beta-hexosaminidase A (Tay-Sachs disease)
total hexosaminidase A (Sandhoff disease)
arylsulphatase A (metachromatic leucodystrophy)
Glucosylsphingosine (Gaucher disease)
beta-galactocerebrosidase (Krabbe disease)
sphingomyelinase (Niemann-Pick disease types A & B)
acid lipase (Wolman's disease)
plasma alpha-N-acetylgalactosaminidase and alpha-mannosidase (I-cell disease, mucolipidosis type III and Schindler's disease)
palmitoyl-protein thioesterase I (Neuronal Ceroid Lipofuscinosis, NCL1), (infantile Batten disease)
Note: If you suspect a mucopolysaccharidosis (MPS) then the screening test of choice is urine mucopolysaccharides (GAGs)
Site Specific Notes
Refer patient to Waikato Hospital Laboratory between 1000-1230.
Send directly to referral laboratory. AM requests send to LabPlus; PM requests send to Canterbury Health Laboratory. Phone 0800 843 522 ext. 80118 before sending to ensure samples are prepared within 18 hours of collection.