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Mucopolysaccharidosis (MPS) : Enzyme Panel

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Test Information

Turnaround Time

21 days

CPT Code(s)

82657 x5

Cost

$1,000

Disorders

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

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

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 the next day.

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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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One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests. I will never forget the following day. It was cool and crisp - not a cloud in the sky. The next thing I know, our ...
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In The News

Jul
29

GGC’s Flanagan-Steet Awarded $100,000 Grant from National MPS Society
Jul
28

Mutual of America Financial Group Enhances Patient Care with Gift to GGC
Jul
01

Butler Completes Laboratory Fellowship at GGC