Clinics and Departments

Laboratory Services

Lab Dept:

Chemistry

Test Name:

MUCOPOLYSACCHARIDOSIS (MPS) PANEL

General Information

Lab Order Codes:

MPSP- whole panel, or individually, codes are listed below:
ALID – Alpha-Iduronidase
ID2S – Iduronate-2-sulfatase
HESU – Heparan N-sulfatase (type A)
NAAG – N-acetyl alpha-glucosaminidase (type B)
ACDA – Acetyl CoA: glucosamine N-acetyl transferase (type C)
NAG6 – N-acetyl glucosamine-6-sulfatase (type D)
NAGS – N-acetyl galactosamine-6-sulfase
BGAL – Beta-galactosidase
ARYB – Arylsulfatase B
BGLU – Beta-glucuronidase

Synonyms:

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)

CPT Codes:

82657 x5 – Enzyme activity in blood cells, cultured cells, or tissue, not elsewhere specified; nonradioactive substrate, each specimen.

Test Includes:

Ten quantitative enzyme levels. See Reference Range for listing.

Logistics

Test Indications:

Monitoring patients with MPS who have had bone marrow transplants or are receiving enzyme therapy or screening for mucopolysaccharidosis (MPS).

Lab Testing Sections:

Chemistry – Sendouts

Referred to:

Greenwood Genetic Center

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Monday - Thursday, 24 hours

Turnaround Time:

7 - 10 days

Special Instructions:

Restricted draw times, collect Mon-Thurs 1130-1430 ONLY.

Specimen

Specimen Type:

Whole Blood

Container:

Green top (NaHep) tubes (2 Tubes)

Draw Volume:

Minimum: 6 mL (3 mL blood in EACH tube)

Processed Volume:

Same as Draw Volume

Collection:

Routine venipuncture

Special Processing:

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.

Patient Preparation:

None

Sample Rejection:

Mislabeled and unlabeled specimens; specimens more than 24 hours old

Interpretive

Reference Range:

Mucopolysaccharides, Quantitative:

Alpha-Iduronidase

6 – 71.4 nmol substrate/hr/mg protein

Iduronate-2-sulfatase

155 - 1082 nmol substrate/hr/mL plasma

Heparan N-sulfatase (type A)

2.21 - 27.34 nmol substrate/17hr/mg protein

N-acetyl alpha-glucosaminidase (type B)

97 - 1064 nmol substrate/17hr/mL plasma

Acetyl CoA: glucosamine N-acetyl transferase (type C)

3.1 - 31.7 nmol substrate/17hr/mg protein

N-acetyl glucosamine-6-sulfatase (type D)

5.3 – 35.4 nmol substrate/24hr/mg protein

N-acetyl galactosamine-6-sulfatase

76.1 – 255.1 nmol substrate/17hr/mg protein

Beta-galactosidase

13.5 - 176 nmol substrate/hr/mg protein

Arylsulfatase B

31.8 – 215.9 nmol substrate/hr/mg protein

Beta-glucuronidase

31.4 - 224 nmol substrate/hr/mg protein

Critical Values:

N/A

Limitations:

N/A

Methodology:

4-methylbumbelliferyl substrate

References:

Greenwood Genetics June 2011

Update:

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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