The enzyme participates in the degradation of heparan sulfate. In the deficiency state, mucopolysaccharides accumulate in lysosomes eventually results in disruption of the integrity of the cell. Following incubation, the quantity of p-nitrophenol released is determined spectrophotometrically following alkalization of the sample. Turn around time is 3-5 days.
Prenatal diagnosis is available on chorionic villus cells or amniocytes.
Prior contact with the laboratory is required before submitting any samples for prenatal diagnosis. Turn around time is dependent on cell growth but is usually 1-2 weeks. Ship plasma overnight frozen. Ship culture or biopsy overnight at room temp. You may return to search anew or return to UCSD Biochemical Genetics home page.