The major storage metabolite in the lysosomes of cells is aspartylglucosamine. The activity of the enzyme is followed by measuring the release of acetylglucosamine. Turn around time is 3-5 days.
Prenatal diagnosis is performed on cultured amniotic fluid cells or chorionic villus cells.
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.