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Test Code B Glu Gau Beta Glucosidase

Clinical System Name

Beta Glucosidase

Synonyms

Gaucher

Glucocerebrosidase

Glucosylceramidase

Description

Fluorometric enzyme test for beta-glucosidase for diagnosis of Gaucher disease.

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

 

 

Reference Range

 

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

WBC

6.5-25.0
FB (Fibroblast) 57-181

 

Methodology

Method: 4 MU Fluorometric assay

Analytical Volume:

Limitations:

CPT Codes

82963

Requisition

Biochemical Genetics Requisition

 

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

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.