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Test Code B Glucuro Beta Glucuronidase

Clinical System Name

Beta Glucuronidase

Synonyms

B Glucuro

MPS VII

Sly Syndrome

 

Description

Fluorometric enzyme test for beta-glucuronidase for diagnosis of MPS VII (Sly syndrome).

Sample Requirements

Specimen: Whole Blood

Container(s): Yellow/ACD A or B, Dark Green/Sodium Heparin Tube

Preferred Vol:10.0 mL

Minimum Vol: 6.0 mL

 

Note: Also acceptable: cultured cells from skin fibroblasts (2 confluent T-25 flasks)

Do NOT use gel separator tubes.

 

Processing Instructions

Reject due to:

Spin: N

Aliquot:N

Temp:RT

Storage location: Biochemical Genetics Box- RT

Weekend Processing: Contact Chem West (x72565) on dayshift. If Chemistry team is unavailable, sample should be stored in RT Biochemical Genetics box.

 

Off-site collection: Do not spin!  Keep at room temperature.  Transport Mon-Thurs at room temperature via overnight shipping.

Stability

Specimen Type Temperature Time
  Room temp

≤24 hrs

  Refrigerated < 24 hrs

Samples received > 24 hr after blood collection will still be processsed and test performed if possible.

Availability

STAT Performed TAT
N Weekly 7-10 days

 

Performing Laboratory

Seattle Children's Laboratory    

Department

Department:  Biochemical Genetics

Phone Number: 206-987-2216

 

 

Reference Range

 

Specimen Type Normal Range (nmol/hr/mg protein)

WBC

165 - 585
FB (Fibroblast) 66 - 186

 

Methodology

Method: 4 MU fluorometric assay

Analytical Volume:

Limitations:

CPT Codes

82657

Requisition

Biochemical Genetics Requisition

 

On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy and family history)

Clinical Utility

Sly syndrome (MPS VII) is a lysosomal storage disorder caused by a deficiency of the enzyme beta-glucuronidase. Deficiency of the beta-glucuronidase enzyme leads to accumulation of heparan, chondroitin and dermatan sulfate in multiple tissues and can cause coarse facial features, corneal clouding, cardiac involvement, skeletal dysplasia, joint stiffness and developmental delay. Age of onset and clinical severity is variable.

 

This test is indicated for individuals with elevated excretion of glycosaminoglycan,  who have had MPS electrophoresis indicating excretion of heparan and dermatan sulfate. This test is not appropriate for determining carrier status or for prenatal diagnosis.