All genetic enzyme assays listed below are provided by London’s Guy’s Hospital Genetic Enzyme Service
A | C | D | F | G | H | I | K | L | M | N | O | P | R | S | T | U | V | W | X
- a-N-Acetylgalactosaminidase
- N-Acetylgalactosamine 6-Sulphatase
- a-N-Acetylglucosaminadase
- N-Acetylneuraminic Acid
- a-N-Acetylneuraminidase
- Acid Esterase
- Acid Lipase
- Adrenomyeloneuropathy
- Amino Acid And Organic Acid Disorders
- Argininosuccinic Aciduria
- Arylsulphatase A
- Arylsulphatase B
- Arylsulphatase C
- Aspartylglucosaminidase
- Aspartylglycosaminuria
- Carbamoyl Phosphate Synthetase
- Carbamoyl Phosphate Synthetase Deficiency
- Catalase Latency
- Ceramidase
- Chitotriosidase
- Cholesterol Ester Storage Disease
- Cholesterol Esterification
- Cholesterol Storage
- Citrullinaemia
- [14c]-Citrulline Incorporation
- [35S]-Cystine Incorporation
- Cystinosis
- Dihydroxyacetone Phosphate Acyl Transferase (DHAP-AT)
- Disorders of Branched-Chain Amino Acid Metabolism
- Disorders Of Galactose Metabolism
- Disorders of Organic Acid Metabolism
- Disorders of Sulphur Amino Acid Metabolism
- Galactocerebrosidase
- Galactokinase
- Galactokinase Deficiency Galactosaemia
- Galactosaemia (Classical)
- Galactose 1-Phosphate Uridyl Transferase
- a-Galactosidase A
- b-Galactosidase
- a -Galactosidase B
- Galactose 6-Sulphatase
- Galactosialidosis
- Gaucher Disease
- Generalised Peroxisomal Disorders
- a-Glucosidase
- b-Glucosidase
- b-Glucuronidase
- Glucosamine N-Acetyltransferase
- Glycogen Storage Disease Type II
- Glycosaminoglycans
- Glycogen Storage Disease
- GM1-Gangliosidosis
- Lysosomal Storage Disorders
- Lysosomal Disorders (Other)
- Lysosomal Enzyme Processing Defects
- Lysosomal Enzyme Screening
- Maple Syrup Urine Disease
- a-Mannosidase
- a-Mannosidosis
- b-Mannosidase
- b-Mannosidosis
- Maroteaux-Lamy Disease
- 3-Methylcrotonylglycinuria
- 3-Methylcrotonyl-CoA Carboxylase
- Metachromatic Leucodystrophy
- Miscellaneous Disorders
- Mucolipidoses
- Morquio Disease
- Mucopolysaccharidoses (MPS)
- Mucopolysaccharidosis Type I
- Mucopolysaccharidosis Type II
- Mucopolysaccharidosis III
- Mucopolysaccharidosis Type IV
- Mucopolysaccharidosis Type VI
- Mucopolysaccharidosis Type VII
- Mucosulphatidosis
- Multiple Carboxylase Deficiency
- Multiple Sulphatase Deficiency
- Peroxisomal Disorders
- Plasmalogen Biosynthesis
- Pompe Disease
- Pyruvate Carboxylase Deficiency
- Propionic Acidaemia
- Propionyl-CoA Carboxylase
- Pseudo-Hurler Polydystrophy
- Pyruvate Carboxylase Deficiency