GALACTOKINASE

Also known as: Galactokinase (RBC); Galactokinase deficiency; Galactosemia

What you need to know about study GALACTOKINASE

Sample type Whole blood
Delivery time 20 business days
Do I need to fast? Sí

What is this study and what is it for?

Preferred test for diagnosis, carrier detection, and genotyping of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia. Differentiating variant galactosemia from classic galactosemia. Confirmation of the results of newborn screening programs.

What type of sample is needed?

Whole blood

Preparation / Instructions

Up to 6 hours fast

Delivery time

20 business days

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    The information published on this site is for informational and educational purposes. It is not a substitute for medical consultation, professional diagnosis, or treatment prescribed by a specialist. If you have any questions regarding symptoms, test results, or laboratory studies, please consult your doctor.