Mucopolysaccharidosis (MPS) Enzyme Panel

Turnaround Time

21 days

CPT Code(s)

82657 x5

Cost

$1,000

• Hurler Syndrome (MPS I)
• Hunter Syndrome (MPS II)
• Sanfilippo syndrome A (MPS IIIA)
• Sanfilippo syndrome B (MPS IIIB)
• Sanfilippo syndrome C (MPS IIIC)
• Sanfilippo syndrome D (MPS IIID)
• Morquio syndrome A (MPS IVA)
• Morquio syndrome B (MPS IVB)
• Maroteaux-Lamy syndrome (MPSVI)
• Sly Syndrome (MPS VII)
• Mucolipidosis II also I-cell disease
• Mucolipidosis III
• Multiple Sulfatase Deficiency

The mucopolysaccharidoses are a group of inherited lysosomal storage disorders (LSDs), each with a distinctive phenotype and a progressive course due to a specific enzyme deficiency. These enzymes are involved in the degradation of specific glycosaminoglycans.

Quantifies level of each enzyme via the 4-methylumbelliferyl substrate

Enzyme activity can be measured in whole blood or fibroblasts. Please send 5-7 ml of whole blood in a green top (sodium heparin) tube.

Whole blood samples should be shipped at ambient temperature and must arrive at the laboratory the next day. Cultured fibroblasts can be sent overnight at room temperature.