beta-N-acetylhexosaminidase measurement
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Indications
- diagnosis of Tay-Sachs disease
- diagnosis of Sandhoff disease
Methods
- enzymatic generation of fluorophore
- heat denaturation of HexA to distinguish subunits HexA & HexB
Specimen
- blood (orange top)
- for carrier state see ref[1]
More general terms
More specific terms
- beta-N-acetylhexosaminidase A in measurement
- beta-N-acetylhexosaminidase B measurement
- beta-N-acetylhexosaminidase in amniotic fluid
- beta-N-acetylhexosaminidase in dried blood spot
- beta-N-acetylhexosaminidase in fibroblasts
- beta-N-acetylhexosaminidase in leukocytes
- beta-N-acetylhexosaminidase in platelets
- beta-N-acetylhexosaminidase in serum
- beta-N-acetylhexosaminidase in tissue
- beta-N-acetylhexosaminidase.A in tissue
Additional terms
References
- ↑ 1.0 1.1 Supra-Regional Assay Service Centres for Analysis and Clinical Interpretation Assays / Genetic Enzymes / b-Hexosaminidase http://www.sas-centre.org/assays/genetic_enzymes/lysstodisbetahexosaminidas.html