Galactosaemia screen (Galactose -1- phosphate uridyl transferase)

Clinical Chemistry

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Description

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Indications

Screening test for Classical Galactosaemia. Identification of carriers and variant forms: See galactose-1-phosphate uridyl transferase ( quantitative ) Classical galactosaemia monitoring: See Galactose-1-phosphate Cataract screen: See Galactokinase

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Sample Type

Whole blood, Lithium heparin, 0.5 mL minimum. See patient preparation.

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Turnaround Time

Within 2 weeks

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External Notes

Sent to: Sheffield Children's Hospital FOR LAB USE ONLY: EDTA samples are NOT suitable.

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Patient Preparation

Galactosaemia screen cannot be done post-transfusion. An alternative test ( urine galactitol ) is possible in these cases. Please contact the Duty Biochemist to discuss.

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Please note: the above information is subject to change and we endeavour to keep this website up to date wherever necessary.