Mucopolysaccharidosis (MPS) Enzyme Panel

Test Information

Turnaround Time

21 days

CPT Code(s)

82657 x5

Cost

$1,000

Clinical Information

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.

Methodology

Quantifies level of each enzyme via the 4-methylumbelliferyl substrate

Specimen Requirements

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.

Transport Instructions

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.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC

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