Microcollect specimens are unsuitable. DO NOT FREEZE . Whole blood must be transported at room temperature and received in the laboratory within 24h of collection to ensure white cell viability and accurate results. Samples with clots are unsuitable .
We can accept samples up to NOON (12pm) prior to the weekend or a public holiday to allow for laboratory processing. The request may not be processed if received after NOON prior to weekends or public holidays.
Please inform laboratory on ext 22016 or via LabLink of specimen transport arrangements and an URGENT sticker is recommended.
This blood can also be used for VLCFA if requested at the same time.
The reference interval will be provided with the result.
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-galactosidase (GM1-gangliosidosis)
- 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)
- alpha-fucosidase (Fucosidosis)
- alpha-mannosidase (Mannosidosis)
- 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)
- tripeptidyl peptidase I (Neuronal Ceroid Lipofuscinosis, NCL2), (late infantile Batten disease).
Note: If you suspect a mucopolysaccharidosis (MPS) then the screening test of choice is urine mucopolysaccharides (GAGs)
Other lysosomal enzymes can be measured if specifically asked for. If the phenotype or the urine GAGs are particularly suggestive of a mucopolysaccharide disorder, then the respective enzyme can be requested.
For further information contact the laboratory (ex 22016 or via lablink) or, contact the metabolic physician on-call 09 367 0000
Referral laboratories:
Microcollect specimens are unsuitable. DO NOT FREEZE. Whole blood must be transported at room temperature and received in the laboratory within 24h of collection to ensure white cell viability and accurate results. Samples with clots are unsuitable.
We can accept samples up to NOON (12pm) prior to the weekend or a public holiday to allow for laboratory processing. The request may not be processed if received after NOON prior to weekends or public holidays.
Please inform laboratory on ext. 22016 or via LabLink of specimen transport arrangements and an URGENT sticker is recommended.
If also requested for VLCFA, please Do Not spin, the plasma will be harvested by Biochemical Genetics at the same time as the white cells.