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

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

Associated Tests

Mucopolysaccharidosis (MPS) : Urine Analysis

Mucopolysaccharidosis I (MPS I), Hurler Syndrome : Alpha-iduronidase Enzyme Analysis

Mucopolysaccharidosis II (MPS II), Hunter Syndrome : iduronate-2-sulfatase enzyme analysis

Mucopolysaccharidosis IIIA (MPS IIIA), Sanfilippo syndrome A : Heparan-N-sulfatase Enzyme Analysis

Mucopolysaccharidosis IIIB (MPS IIIB), Sanfilippo syndrome B : N-acetyl-alpha-D-glucosaminidase Enzyme Analysis

Mucopolysaccharidosis IIIC, Sanfilippo syndrome C : Acetyl CoA: glucosamine N acetyl transferase Enzyme Analysis

Mucopolysaccharidosis IIID, Sanfilippo syndrome D : N-acetyl glucosamine-6-sulfatase Enzyme Analysis

Mucopolysaccharidosis IVA (MPSIVA), Morquio syndrome A : N-acetyl-galactosamine-6-sulfatase Enzyme Analysis

Mucopolysaccharidosis IVB (MPS IVB), GM1 Gangliosidosis, Morquio syndrome B : Beta-galactosidase Enzyme Analysis

Mucopolysaccharidosis VI, Maroteaux-Lamy syndrome : Arylsulfatase B Enzyme Analysis

Mucopolysaccharidosis VII, Sly Syndrome : Beta-glucuronidase Enzyme Analysis

Mucopolysaccharidosis I (MPS I), Hurler Syndrome : IDUA Sequencing

Mucopolysaccharidosis II (MPSII), Hunter Syndrome : IDS Sequencing

Mucopolysaccharidosis IIIA (MPS IIIA), Sanfilippo syndrome A : SGSH Sequencing

Mucopolysaccharidosis IIIB, Sanfilippo syndrome B : NAGLU Sequencing

Mucopolysaccharidosis IIIC, Sanfilippo syndrome C : HGSNAT Sequencing

Mucopolysaccharidosis IVA (MPSIVA), Morquio syndrome A : GALNS Sequencing

Mucopolysaccharidosis IVB (MPS IVB), GM1 Gangliosidosis, Morquio syndrome B : GLB1 Sequencing

Mucopolysaccharidosis VI (MPSVI), Maroteaux-Lamy syndrome : ARSB Sequencing

Mucopolysaccharidosis VII, Sly Syndrome : GUSB Sequencing

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

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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
Kellie Walden, MS, CGC