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Lab Dept:
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Chemistry
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Test Name:
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GALACTOSE–1–PHOSPHATE URIDYLTRANSFERASE
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General Information
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Lab Order Codes:
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G1PH
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Synonyms:
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GPUT; GALT
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CPT Codes:
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82775 – Galactose-1-phosphate uridyl transferase; quantitative
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Test Includes:
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Galactose-1-phosphate uridyl transferase level reported as U/g of hemoglobin.
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Logistics
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Test Indications:
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This assay is a quantitative measurement of the enzyme GPUT and provides an approximation of the patient’s genotype. A deficiency of this enzyme is the most common cause of galactosemia. A galactokinase deficiency is the second most common cause of galactosemia. Those patients with GPUT values of 10.0 U/g of hemoglobin or less should be definitively characterized by genotyping. This assay is not useful for diet monitoring of galactosemics
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Lab Testing Sections:
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Chemistry - Sendouts
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Referred to:
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Mayo Medical Laboratories (Mayo Test# 8333)
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Phone Numbers:
Minneapolis:
Saint Paul:
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612-813-6280
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651-220-6550
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Test Availability:
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Daily, 24 hours
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Turnaround Time:
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3 – 4 days; test set up Monday through Friday
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Special Instructions:
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See Patient Preparation
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender top (EDTA) tube
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Draw Volume:
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5.0 mL (Minimum: 2.0 mL) blood
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture
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Special Processing:
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Lab Staff: Do Not centrifuge. Specimen should remain in original collection tube. Store and ship at refrigerated temperatures. Specimen must not be frozen. Forward promptly.
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Patient Preparation:
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Fasting specimen (4 hour) preferred
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Sample Rejection:
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Specimens other than whole blood, anticoagulants other than EDTA, Heparin or ACD, gross hemolysis, frozen specimens, mislabeled or unlabeled specimens
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Interpretive
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Reference Range:
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≥18.5U/g of hemoglobin
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Critical Values:
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N/A
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Limitations:
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This assay is not useful for monitoring of dietary compliance by galactosemics.
The presence of galactose in blood and urine is dependent upon dietary consumption, and this test is valid only after the patient has consumed either galactose or lactose in their normal diet.
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Methodology:
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Ultraviolet, Kinetic
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Contraindications:
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This assay is not useful for diet monitoring of galactosemias
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References:
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Mayo Medical Laboratories Web Page (June 2006) http://www.mayoreferenceservices.org/mrs/mml/index.asp
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Updates:
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11/21/2006: MML has removed the upper normal range value for this test. The reference range previously was stated as 18.5-28.5 U/g of hemoglobin.
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