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Test Code B Manno Beta Mannosidase

Clinical System Name

Beta Mannosidase (Mannosidosis)

Synonyms

B Manno

Description

Fluorometric enzyme test for beta-mannosidase

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
whole blood Room temp

≤24 hrs

  Refrigerated < 24 hrs

 

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

88 - 144
FB (Fibroblast) 23 - 165

 

Methodology

Method: Fluorometric enzyme assay using 4MU substrate

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

Beta-mannosidosis is a glycoprotein storage disorder caused by a deficiency of beta-mannosidase.

The test is used to confirm the diagnosis in patients with mental retardation, history of recurrent respiratory infections, hearing loss, angiokeratoma or abnormal urine oligosaccharide pattern suggestive of B-mannosidosis.