Whole blood is normally drawn, but the enzyme assay measures activity in leukocytes, white blood cells that represent only a small fraction of whole blood.
22.
To measure the initial ( and maximal ) rate, enzyme assays are typically carried out while the reaction has progressed only a few percent towards total completion.
23.
:: : : That wouldn't work logically, because the discussion of the two testing modalities, enzyme assay and molecular analysis, has to be interwoven with the two.
24.
The further development of enzyme assays demonstrated that levels of hexosaminidases A and B could be measured in patients and carriers, allowing the reliable detection of heterozygotes.
25.
However, the technique could be adapted for the continuous enzyme assay when colour intensity is monitored over time by incubating sister blots for progressively increasing periods of time.
26.
He is best known for his role in the discovery and development of an enzyme assay method of screening for Tay-Sachs disease, a rare and fatal genetic disorder.
27.
There is also an assortment of bead coatings available that allows this method to be applied to a broad range of applications, such as enzyme assays and radio-immuno assays.
28.
The enzyme assay approach tests phenotype at the molecular level with the levels of enzyme activity, while the mutation analysis approach tests the genotype directly, seeking known genetic markers.
29.
The two methods are used in tandem because an enzyme assay can detect all mutations with some inconclusive results, while mutation analysis can give definite results, but only for known mutations.
30.
:: : : GM2 gangliosidoses are the same disease clinically, but the three sub-types ( of which TSD is the most famous ) can be distinguished by enzyme assay and mutation analysis.
