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HelpTest Code LAB2773 Alpha Galactosidase
Clinical System Name
Alpha Galactosidase
Synonyms
Fabry
A Gal Fab
Description
Fluorometric enzyme test for alpha-galactosidase for diagnosis of Fabry 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: newborn blood spots (minimum of 3 spots) and 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 | Rm Temp |
≤24 hrs |
| Whole blood | Refrigerated | < 24 hrs |
| Dried Blood Spots | Rm Temp | 1 week |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | Weekly | 7-10 days |
Performing Laboratory
Seattle Children's Laboratory
Department
Department: Biochemical Genetics
Phone Number: 206-987-2216
Methodology
Method: 4 MU Fluorometric Assay
Analytical Volume:
Limitations:
Reference Range
| Specimen Type | Normal Range |
|
WBC |
20-115 nmol/hr/mg protein |
| Blood Spot | 20-62 pmol/hr/spot |
CPT Codes
82657
Special Instructions
Links to:
Consent Forms
Algorithms
Requisition
Biochemical Genetics Requisition
On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy and family history)
Clinical Utility
The test is used for evaluation of Fabry disease in patients
with some or all of the following:
-periodic crises of severe pain in the extremities
-angiokeratomas
-hypohidrosis
-characteristic corneal and lenticular opacities
-stroke
-left ventricular hypertrophy
-renal insufficiency of unknown etiology