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Test Code A Gal Fab 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

 

 

Reference Range

Specimen Type Normal Range

WBC

20-115 nmol/hr/mg protein
Blood Spot 20-62 pmol/hr/spot

 

Methodology

Method: 4 MU Fluorometric Assay

Analytical Volume:

Limitations:

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