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

Assays / Genetic Enzymes / Disorders of Sulphur Amino Acid Metabolism

Disorder

Enzyme Or Test

Homocystinuria*

Cystathionine b-synthetase

Cystinosis*

see lysosomal storage disorders


(* = prenatal diagnosis available)

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