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HelpTest Code LAB2843 Beta Mannosidase
Clinical System Name
Beta Mannosidase (Mannosidosis)
Synonyms
B Manno
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
CPT Codes
82657
Methodology
Method: Fluorometric enzyme assay using 4MU substrate
Analytical Volume:
Limitations:
Reference Range
| Specimen Type | Normal Range (nmol/hr/mg protein) |
|
WBC |
88 - 144 |
| FB (Fibroblast) | 23 - 165 |
Description
Fluorometric enzyme test for beta-mannosidase
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 intellectual disability, history of recurrent respiratory infections, hearing loss, angiokeratoma or abnormal urine oligosaccharide pattern suggestive of B-mannosidosis.
Requisition
Biochemical Genetics Requisition
On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy and family history)