Galactosemia Classical (transferase) Quantitative, Blood

23 %

Galactosemia Classical (transferase) Quantitative, Blood

212 Ratings

Rs 1,900 Rs 2,470

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Test Description not updated

4 mL (2 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube. Ship refrigerated. DO NOT FREEZE. Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany sample.

Enzyme assay

Sample Daily by 4 pm; Report 5 days

Classical Galactosemia due to complete deficiency of Galactose -1- phosphate uridyltransferase is characterised by poor growth, mental retardation, speech abnormalities, vison impairment due to cataract and liver enlargement. Partial deficiency of Galactose -1- phosphate uridyltransferase leads to Galactosemia Duarte variant.

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Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany sample.

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