Referred to Biochemical Genetics, Genetics Centre, Guy's Hospital. London SE1 9RT
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Alternative names, keywords |
Gal1PUT, gal-1-PUT, galactose-1-PO4 UDPT, GALT deficiency, galactosaemia. |
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Samples required |
Recent blood transfusion may invalidate result - carrier testing can be done on parents of transfused individuals. Please avoid sending on a Friday as delays in delivery to referral lab may affect results. |
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Test indications |
To confirm one form of galactosaemia. |
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Reference range |
Normal range: 18.8 - 40.9 µmol/hr/gHb |
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Turnaround time |
Referral lab quotes turnaround time of 2-5 days, however additional time must be allowed for packing, dispatch and delivery of sample, and return and processing of results. |
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Enquiries |
Biochemistry (Referrals) |
Lithium heparin blood (green cap, 6 mL tube). Minimum required is 1 mL.