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Lab Dept:
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Chemistry
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Test Name:
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MUCOPOLYSACCHARIDOSIS (MPS) PANEL
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General Information
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Lab Order Codes:
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MPSP
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Synonyms:
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Alpha-iduronidase (Hurler’s Syndrome, MPS I); Iduronate-2-sulfatase (Hunter Syndrome, MPS II); Heparin Sulfamidase (Sanfilippo’s Syndrome Type A, MPS IIIA); N-acetyl-alpha-glucosaminidase (Sanfilippo syndrome Type B, MPS IIIB); Acetyl Coa:glusocaminidase N-acetyltrasferase (Sanfilippo Syndrome Type C, MPS IIIC); N-acetyl glucosamine-6-sulfatase (Sanfilippo Syndrome Type D, MPS IIID); Galactosamine-6-sulfatase (Morquio Syndrome Type A, MPS IVA); Beta-galactosidase (Morquio Syndrome Type B, MPS IVB); Arylsulfatase B (Maroteaux Lamy’s Syndrome, MPS VI); Beta-glucuronidase (Sly Syndrome)
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CPT Codes:
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82657 x5 – Enzyme activity in blood cells, cultured cells, or tissue, not elsewhere specified; nonradioactive substrate, each specimen.
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Test Includes:
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Ten quantitative enzyme levels. See Reference Range for listing.
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Logistics
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Test Indications:
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Monitoring patients with MPS who have had bone marrow transplants or are receiving enzyme therapy or screening for mucopolysaccharidosis (MPS).
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Lab Testing Sections:
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Chemistry – Sendouts
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Referred to:
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Greenwood Genetic Center
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Phone Numbers:
Minneapolis:
Saint Paul:
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612-813-6280
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651-220-6550
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Test Availability:
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Monday - Thursday, 24 hours
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Turnaround Time:
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7 - 10 days
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Special Instructions:
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Restricted draw times, collect Monday – Thursday ONLY.
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Specimen
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Specimen Type:
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Whole Blood
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Container:
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Green top (NaHep) tubes (2 Tubes)
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Draw Volume:
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Minimum: 6 mL (3 mL blood in EACH tube)
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture
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Special Processing:
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Lab Staff: Do Not Centrifuge. Specimen should remain in the original collection containers. Store and ship at room temperature. Forward promptly. Specimens must arrive at Greenwood Genetic Center within 24 hours of collection.
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Patient Preparation:
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None
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Sample Rejection:
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Mislabeled and unlabeled specimens
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Interpretive
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Reference Range:
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Mucopolysaccharides, Quantitative:
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Alpha-Iduronidase
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6 – 71.4 nmol substrate/hr/mg protein
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Iduronate-2-sulfatase
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155 - 1082 nmol substrate/hr/mL plasma
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Heparan N-sulfatase (type A)
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2.21 - 27.34 nmol substrate/17hr/mg protein
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N-acetyl alpha-glucosaminidase (type B)
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97 - 1064 nmol substrate/17hr/mL plasma
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Acetyl CoA: glucosamine N-acetyl transferase (type C)
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3.1 - 31.7 nmol substrate/17hr/mg protein
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N-acetyl glucosamine-6-sulfatase (type D)
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5.3 – 35.4 nmol substrate/24hr/mg protein
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N-acetyl galactosamine-6-sulfatase
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76.1 – 255.1 nmol substrate/17hr/mg protein
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Beta-galactosidase
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13.5 - 176 nmol substrate/hr/mg protein
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Arylsulfatase B
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31.8 – 215.9 nmol substrate/hr/mg protein
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Beta-glucuronidase
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31.4 - 224 nmol substrate/hr/mg protein
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Critical Values:
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N/A
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Limitations:
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N/A
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Methodology:
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4-methylbumbelliferyl substrate
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References:
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Greenwood Genetics June 2011
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Update:
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4/6/2011: Change in reference range for Arylsulfatase B.
4/11/2011: Change in reference range for N-acetyl alpha glucosaminidase (type B)
6/16/2011: Reference range updates
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