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White Cell Enzymes


Blood
Test performed by: LabPLUS Biochemical Genetics


Specimen Collection
EDTA10 mL EDTA Blood

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.

Lablink


Reference Intervals

Provided with report



Turnaround Time: Between 6 weeks and 8 weeks
Assay Method

Referred to SA Pathology Women's and Children's Hospital, Adelaide.


Diagnostic Use and Interpretation

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:

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.

 


Contact Information

For further information contact the laboratory (ex 22016 or via lablink) or, contact the metabolic physician on-call 09 367 0000


Specimen Transport Instructions for Referring Laboratories

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.



Last updated at 12:09:51 26/09/2024