Imperial Collage Healthcare

White cell enzymes


Test Background
Genetic defects of lysosomal enzymes cause the accumulation of incompletely catabolised substrates, with consequent accumulation in the affected cell systems, eg. connective tissue, cartilage, solid organs, bone and, above all, nervous tissue.


Clinical Indications
Investigation of suspected lysosomal storage diseases.


Reference Range

See report


Sample Required
Heparin (green top) and EDTA (lavender top) for DNA analysis


Sample Volume
5 mL of each


Turnaround Time
Up to 6 weeks


Notes
Not currently performed in house; this is a referred test.
Blood transfusion within 4 weeks may interfere with the result and sampling at this time is best avoided if possible

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