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
ransport/Storage 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.
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