Galactose-1-phosphate uridyl transferase (quantitative)

Container: Li heparin (green top)

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: Metabolic Biochemistry

Turnaround time: 28 days

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.