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HelpTest Code LAB2773 Alpha Galactosidase
Clinical System Name
Alpha Galactosidase
Synonyms
Fabry
A Gal Fab
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
CPT Codes
82657
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 |
Description
Fluorometric enzyme test for alpha-galactosidase for diagnosis of Fabry disease.
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
Requisition
Biochemical Genetics Requisition
On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy and family history)
Special Instructions
Links to:
Consent Forms
Algorithms