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beta-N-acetylhexosaminidase measurement

Indications: - diagnosis of Tay-Sachs disease - diagnosis of Sandhoff disease Method: - enzymatic generation of fluorophore - heat denaturation of HexA to distinguish subunits HexA & HexB Specimen: - blood (orange top) - for carrier state see ref [1]

Related

beta N-acetylhexosaminidase

Specific

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

General

special chemistry test

References

  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