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HelpTest Code LAB2841 Beta Glucuronidase
Clinical System Name
Beta Glucuronidase
Synonyms
B Glucuro
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
CPT Codes
82657
Methodology
Method: 4 MU fluorometric assay
Analytical Volume:
Limitations:
Reference Range
| Specimen Type | Normal Range (nmol/hr/mg protein) |
|
WBC |
165 - 585 |
| FB (Fibroblast) | 66 - 186 |
Description
Fluorometric enzyme test for beta-glucuronidase for diagnosis of MPS VII (Sly syndrome).
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.
Requisition
Biochemical Genetics Requisition
On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy and family history)