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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
M5G 1X8
Phone: 416-813-7200
Toll Free: 1-855-381-3212
Hours: 7 days/week, 24 hours/day
Background and clinical significance

Qualitative assessment

Disease condition


GALT deficiency

Galactose-1-Phosphate Uridyl Transferase deficiency

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