Mucopolysaccharidosis (MPS) Enzyme Panel (DBS)

Turnaround Time

3 weeks

CPT Code(s)

82657 x4

Cost

$800

Enzymes

• Hurler Syndrome (MPS I)
• Hunter Syndrome (MPS II)
• 16q24.3 microdeletion syndrome
• 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

The mucopolysaccharidoses are a group of inherited lysosomal storage disorders, 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. This test includes quantitative measurement of total glycosaminoglycans as well as quantitation of the individual GAG components, including heparan sulfate, dermatan sulfate, chondroitin sulfate, and keratan sulfate.

Glycosaminoglycans are typically elevated in the urine of affected patents. For patients with a suspected MPS diagnosis, measurement of glycosaminoglycans in urine can be a useful screening test.

The activity of 7 enzymes are measured from a dried blood spot. Beta-galactosidase is measured using a 4-methylumbelliferyl substrate. The other 6 enzymes are measured using a multiplexed assay via tandem mass spectrometry (LC-MS/MS).

To ensure sufficient quantity for testing, please fill five circles on the card if possible. Cards are available upon request, and 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 DBS Collection Instruction Video

When sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Sample should be sent at ambient temperature.