Turnaround times
The quoted turnaround time is from sample receipt in the laboratory, to results authorisation in the Laboratory Information Management system. The times do not include transport of specimen to the laboratory or the administrative process to print and post/email reports. Service users must allow for transport and reporting time when ordering tests.
Clinical background:
Inherited deficiencies of lysosomal enzymes usually cause the accumulation of incompletely catabolized substrates within the organelle and progressive impairment of the function of affected cell systems (e.g. connective tissue, solid organs, cartilage, bone and, above all, nervous tissue). The cell and consequently the whole organ ‘swells’ causing typical organomegaly and other morphological features. There is clinical overlap between different disease groups and the age of manifestation may be variable.
Analysis of a panel of lysosomal enzymes is a useful screening test for lysosomal storage disorders. The test does not diagnose mucopolysaccharide disorders, neuronal ceroid lipofuscinoses or Niemann Pick C. See separate pages for tests for these disorders. If a specific disorder is suspected, please contact the metabolic laboratory to discuss.
Specimen container paediatric:
EDTA whole blood
Specimen container adult:
EDTA whole blood
Minimum volume paediatric:
5 -10 mL blood
Minimum volume adult:
5 -10 mL blood
Special requirements:
Must reach RVI lab for processing within 24 hours (and before 2pm on Friday)
Please notify laboratory first (ext: 20334)
Transport requirements:
Transport at room temperature
Interpretation:
An interpretation of the results is provided with each report.
Reference ranges:
Provided on report
Other info:
The lysosomal enzymes panel includes the following tests:
Plasma chitotriosidase – (non-specific marker for lysosomal storage disorders)
Plasma β-hexosaminidase – (Sandhoff disease, I-Cell disease)
Plasma β-mannosidase – (β-Mannosidosis, I-Cell disease)
Plasma β-hexosaminidase A – (Tay-Sachs disease)
Plasma aspartylglucosaminidase – (Aspartylglucosaminuria)
Leucocyte β-glucuronidase – (Sly disease, MPS VII)
Leucocyte β-galactosidase – (GM1-gangliosidosis)
Leucocyte α-mannosidase – (α-Mannosidosis)
Leucocyte α-galactosidase – (Fabry disease)
Leucocyte α-fucosidase – (Fucosidosis)
Leucocyte acid esterase – (Wolman/Cholesterol ester storage disease)
Leucocyte arylsulphatase A – (Metachromatic Leucodystrophy)
Leucocyte β-glucosidase – (Gaucher disease)
Leucocyte sphingomyelinase – (Niemann-Pick types A & B)
Leucocyte galactocerebrosidase – (Krabbe Leucodystrophy)
Leucocyte N-acetyl-α-galactosaminidase – (Schindler disease)