Sample type: Whole Blood
Test name: Galactose-1-phosphate uridyl transferase (quantitative) a.k.a. gal-1-put, quantitative GALT carrier testing
Condition / Indication: Classical Galactosaemia Confirmation
Special precautions & notes: Please do not collect samples on a Friday. This test can identify carriers and variant forms (e.g. Duarte). Test not suitable if the patient has received any red cell transfusions within last 4 months.
Reference range: Please note, as of 3rd August 2020, HPLC-MS/MS method in use; new reference ranges apply. Normal = 28.4 - 39.4 µmol/hr/g Hb. Galactosaemic = <0.5 µmol/hr/g Hb.
Container: Li heparin (green top)
Ideal volume (mL): 1 mL
Referred outside NBT for analysis? No
Discipline: Clinical Biochemistry
Section: Biochemical Genetics
Turnaround time: 28 days
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Information for Laboratories referring samples for analysis at NBT:
We prefer to receive the sample within 24 hours of collection (48 hours maximum). Therefore, please don't collect samples on a Friday. Send immediately as whole blood, do not centrifuge.