Galactosemia Screen
Galactose-1-Phosphate-Uridyltransferase screen, GAL-1-PUT screen, G1PUT screen
Heparinized whole blood (tube or syringe)
50 µL of heparinized whole blood
Refrigerate immediately and ship cold. Do not freeze.
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.
Qualitative assessment
Galactosemia
GALT deficiency
Galactose-1-Phosphate Uridyl Transferase deficiency
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