Mucopolysaccharidosis (MPS) : Enzyme Panel

Test Information

This enzyme panel includes quantitative measurement of the activity for 10 MPS enzymes. 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.

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

Associated Tests

Specimen Requirements

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

Transport Instructions

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 within 24 hours

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
Kellie Walden, MS, CGC

Biochemical Testing, Enzyme Panels
Meet The Jones Family

Meet The Jones Family

The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. Our son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida, hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered. ...

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