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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

Mucopolysaccharidosis I Hurler Syndrome

Mucopolysaccharidosis II Hunter Syndrome

Mucopolysaccharidosis IIIA Sanfilippo syndrome A

Mucopolysaccharidosis IIIB Sanfilippo syndrome B

Mucopolysaccharidosis IIIC Sanfilippo syndrome C

Mucopolysaccharidosis IIID Sanfilippo syndrome D

Mucopolysaccharidosis IVA Morquio syndrome A

Mucopolysaccharidosis IVB (MPS IVB) Morquio syndrome B

Mucopolysaccharidosis VI (MPSVI) Maroteaux-Lamy syndrome

Mucopolysaccharidosis VII (MPS VII) Sly Syndrome

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 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

Meet the Shenal Family

Our daughter, Ryleigh, was diagnosed with a rare chromosomal deletion shortly after she was born in 2010. Since we received her diagnosis, the Greenwood Genetic Center has become part of our family. They made certain that we did not feel alone, and they continue to provide ongoing, compassionate care for our child. The impact they have had on our family and others across the globe everyday is immeasurable. We can't imagine walking this journey without...

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