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Galactosemia Screen
Alternate test name
Galactose-1-Phosphate-Uridyltransferase screen, GAL-1-PUT screen, G1PUT screen
Lab area
Clinical Biochemistry - Metabolic Diseases
Method and equipment
Classic Beutler test identifying fluorescence of NADPH following incubation of whole blood with Galactose-1-Phosphate
Expected turn-around time
1 week
Specimen type
Heparinized whole blood (tube or syringe)
Specimen requirements
50 µL of heparinized whole blood
Storage and transportation
Refrigerate immediately and ship cold. Do not freeze.
Special requirements
Testing available for patients <18 years or age. For patients > 18 years of age, please contact the Metabolic Diseases Lab to provide clinical indications for approval before sending the sample.
Patient must not have received a Red Blood Cell transfusion in previous 3 months. Specimen must not have been collected in a citrate tube. Specimen must not be separated.
Shipping information
The Hospital for Sick Children
Rapid Response Laboratory
555 University Avenue, Room 3642
Toronto, ON
Canada
M5G 1X8
Phone: 416-813-7200
Toll Free: 1-855-381-3212
Hours: 7 days/week, 24 hours/day
Requisition
Background and clinical significance
Qualitative assessment
Disease condition
Galactosemia
GALT deficiency
Galactose-1-Phosphate Uridyl Transferase deficiency
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Customer Service
Toll Free: 1-855-381-3212
Local: 416-813-7200