Testing for Enzyme Deficiency in Genetic Diseases

The lab analyst measures the amount of the beta–hexosaminidase A or B that is present, typically in a serum specimen. These two enzymes are deficient in conditions such as Tay–Sachs disease or Sandhoff disease. When this enzyme is deficient, waste products accumulate and cause severe central nervous system degeneration and eventual death. (The b in b–hexosaminidase stands for the Greek character for beta.) Choose a location to see hospital-reported price summaries. This page does not show national, sample, or aggregate pricing.