Supra-Regional Assay Service
Centres for Analysis and Clinical Interpretation
Assays

Assays / Genetic Enzymes / Lysosomal Enzyme Processing Defects

DISORDER
ENZYME OR TEST
I-cell disease*and Pseudo-Hurler polydystrophy* Arylsulphatase A
  b-Hexosaminidase
  other lysosomal enzymes

(* = prenatal diagnosis available)

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