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.
Investigation of suspected lysosomal storage diseases.
Heparin (green top) and EDTA (lavender top) for DNA analysis
5 mL of each
Sample must arrive at the referral lab within 24 h of collection. If you wish to send a sample on a Friday, please contact the laboratory first.
Up to 6 weeks
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