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

5-7 ml of whole blood in a green top, sodium heparin tube.

Specimen should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day.