Home
HelpTest Code LAB2778 Alpha Mannosidase
Clinical System Name
Alpha Mannosidase
Synonyms
Mannosidosis
A 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
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 |
|---|---|---|
| Whole blood | Room temp |
≤24 hrs |
| Whole blood | 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: 4 MU Fluorometric Enzyme Assay
Analytical Volume:
Limitations:
Reference Range
| Specimen Type | Normal Range (nmol/hr/mg protein) |
|
WBC |
65-530 |
| FB (Fibroblast) | 55-231 |
Description
Fluorometric enzyme test for alpha-mannosidase
Clinical Utility
The test is indicated for individuals with some or all of the following:
-intellectual disability
-skeletal abnormalities
-hearing loss
-cerebellar ataxia
-myopathy
-abnormal urine oligosaccharide pattern.
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)