Other Enzyme Assays

Test Required specimen & volume Special precautions Turnaround time Reference ranges Section
Aspartylglucosaminidase
Aspartylglucosaminuria 		5ml EDTA, CC, AFC, CCV, CVS To reach the laboratory within 72 hours of venepuncture 3 working weeks Plasma 10 – 60 nmol/ml/h

Other tissues, assay controls quoted

Lysosomal
N-acetyl α-neuraminidase
Sialidosis 		CC, AFC, CCV To reach the laboratory within 72 hours of venepuncture 3 working weeks following completion of culture Assay controls quoted Lysosomal
α-fucosidase
Fucosidosis 		5ml EDTA, CC, AFC, CCV, CVS To reach the laboratory within 72 hours of venepuncture 3 working weeks Leucocytes 50 – 250 nmol/mg/hr

Other tissues, assay controls quoted

Lysosomal
α-mannosidase
α-Mannosidosis 		5ml EDTA, CC, AFC, CCV, CVS To reach the laboratory within 72 hours of venepuncture 3 working weeks Leucocytes 100 – 800 nmol/mg/hr

Other tissues, assay controls quoted

Lysosomal
β-mannosidase
β-Mannosidosis 		5ml EDTA, CC, AFC, CCV, CVS To reach the laboratory within 72 hours of venepuncture 3 working weeks Plasma 150 – 1500 nmol/ml/hr

Other tissues, assay controls quoted

Lysosomal
Multiple hydrolases
ML II & III 		5ml EDTA, CC, AFC, CCV, CVS To reach the laboratory within 72 hours of venepuncture 2 working weeks Various, multiple enzymes analysed.

In assay controls quoted

 Lysosomal
β-hexosaminidase A (MUGS)
Tay-Sachs disease 		5ml EDTA, CC, AFC, CCV, CVS To reach the laboratory within 72 hours of venepuncture 2 working weeks Plasma 50 – 250 nmol/ml/hr

Other tissues, assay controls quoted

Lysosomal
Hexosaminidase A & B
Sandhoff disease 		5ml EDTA, CC, AFC, CCV, CVS To reach the laboratory within 72 hours of venepuncture 2 working weeks Plasma 600 – 3500 nmol/ml/hr

Other tissues, assay controls quoted

Lysosomal
Galactocerebrosidase (Natural Substrate)
Krabbe Leucodystrophy 		5ml EDTA, CC, AFC, CCV, CVS To reach the laboratory within 72 hours of venepuncture 3 working weeks Leucocytes 0.4 – 4 nmol/mg/hr

Other tissues, assay controls quoted

Lysosomal
Arylsulphatase A
Metachromatic Leucodystrophy 		5ml EDTA, CC To reach the laboratory within 72 hours of venepuncture 3 working weeks Leucocytes 50 – 250 nmol/mg/hr

Other tissues, assay controls quoted

Lysosomal
α-galactosidase
Fabry disease 		5ml EDTA, CC To reach the laboratory within 72 hours of venepuncture 1 working week Plasma 3 – 20 nmol/ml/hr
Leucocytes 10 – 50 nmol/mg/hr

Other tissues, assay controls quoted

Lysosomal
β-glucosidase
Gaucher disease 		5ml EDTA, CC, AFC, CCV, CVS To reach the laboratory within 72 hours of venepuncture 3 working weeks Leucocytes 1 – 5 nmol/mg/hr

Other tissues, assay controls quoted

Lysosomal
Chitotriosidase
Marker for some lysosomal storage disorders, monitoring Gaucher patients on treatment 		2ml EDTA To reach the laboratory within 72 hours of venepuncture 2 working weeks Plasma 4 – 120 nmol/ml/hr Lysosomal
N-acetyl-alpha-galactosaminidase
Schindler disease 		5ml EDTA, CC To reach the laboratory within 72 hours of venepuncture 3 working weeks Leucocytes 5 – 50 nmol/mg/hr

Other tissues, assay controls quoted

Lysosomal
Sphingomyelinase
Niemann-Pick A and B 		5ml EDTA, CC, AFC, CCV, CVS To reach the laboratory within 72 hours of venepuncture 3 working weeks Leucocytes 1 – 10 nmol/mg/hr

Other tissues, assay controls quoted

Lysosomal
Acid esterase
Wolman disease and cholesteryl ester storage disease 		5ml EDTA, CC, AFC, CCV, CVS To reach the laboratory within 72 hours of venepuncture 3 working weeks Leucocytes 350 – 2000 nmol/mg/hr

Other tissues, assay controls quoted

Lysosomal

NCL Screen
Palmitoyl Protein Thioesterase 1
Infantile Neuronal Ceroid Lipofucinoses (INCL)

and
Tripeptidyl Peptidase 1
Late infantile Neuronal Ceroid Lipofucinoses (LINCL)

 5ml EDTA To reach the laboratory within 72 hours of venepuncture 3 working weeks 15 – 83 nmol/mg/hr

56 – 219 nmol/mg/hr

Lysosomal
Filipin Staining (Cholesterol esterification)
Niemann-Pick C 		CC Cell cultures to reach the laboratory within 48 hours 12 working weeks after culture Qualitative Lysosomal
Oxysterol
Niemann-Pick C 		2ml EDTA Separate plasma from whole blood on day sample taken, freeze and send to laboratory frozen 4 working weeks Normal: 8.1 – 37.7 ng/ml (95% CI 9.6 – 37.0)
NPC1: 35.3 – 1170 ng/ml (95% CI 39.3 – 811.9) 		Metabolites