Maroteaux-Lamy Syndrome (MPS VI): Arylsulfatase B Enzyme Analysis

Turnaround Time

2 weeks

CPT Code(s)

82657

Cost

$200

Enzymes

• Maroteaux-Lamy syndrome (MPSVI)

Maroteaux Lamy syndrome is characterized by short stature, coarse facies, corneal clouding, joint stiffness and contractures and splenomegaly. Other features may include inguinal hernia, obstructive airway disease, skeletal abnormalities and cardiac valve disease. The progression of Maroteaux Lamy syndrome varies among affected individuals, and intelligence is typically not affected.

This test can be used to confirm a suspected Maroteaux Lamy syndrome diagnosis.

4-methylumbelliferyl substrate

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 need 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.

Whole blood samples (for leukocyte analysis) should be shipped at ambient temperature and must arrive at the laboratory the next day. 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 can be mailed at ambient temperature.