Molecular analysis of ARSB gene is also available for identification of the causative mutation within a family, carrier status and prenatal diagnosis.

Enzyme activity can be measured in leukocytes, cultured fibroblasts, or dried blood spots. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, a minimum of three circles needs to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions.

Sample Collection and Requirements

In addition, a dried blood spot or blood drawn in an EDTA tube can be used for Maroteaux-Lamy syndrome molecular analysis and may be sent for DNA banking. Please indicate on the requisition if DNA should be banked for follow-up molecular testing.

Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory within 24 hours of specimen collection.

Cultured fibroblasts should be sent overnight at room temperature.   

For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples should be placed in the mail within 24 hours of collection. Overnight shipping is preferred.