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HelpTest Code LAB2840 Beta Glucosidase
Clinical System Name
Beta Glucosidase
Synonyms
Gaucher
Glucocerebrosidase
Glucosylceramidase
Beta-glucocerebrosidase
B Glu Gau
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
Processing on weekends: 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 |
Contact the Biochemical Genetics Lab for resquests outside of stated availability (206)987-2216.
Performing Laboratory
Seattle Children's Laboratory
Department
Department: Biochemical Genetics
Phone Number: 206-987-2216
CPT Codes
82963
Methodology
Method: 4 MU Fluorometric assay
Analytical Volume:
Limitations:
Reference Range
| Specimen Type | Normal Range (nmol/hr/mg protein) |
|
WBC |
6.5-25.0 |
| FB (Fibroblast) | 57-181 |
Description
Fluorometric enzyme test for beta-glucosidase for diagnosis of Gaucher disease.
Clinical Utility
Deficiency of beta-glucosidase is supportive of a diagnosis of Gaucher disease. Type I Gaucher is a lysosomal storage disease characterized by hepatosplenomegaly, anemia and thrombocytopenia, and skeletal involvement including osteoporosis, osteonecrosis, lytic lesions and Erlenmeyer flask deformity. Gaucher disease type II presents in infancy with severe neurologic and visceral involvement but without skeletal manifestations. Type III presents as Type I but with the addition of neurologic involvement. Inheritance is autosomal recessive. Type I Gaucher is common in the Ashkenazi Jewish population, with a prevalence of 1/450 – 1/1000.
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)