Turnaround times
The quoted turnaround time is from sample receipt in the laboratory, to results authorisation in the Laboratory Information Management system. The times do not include transport of specimen to the laboratory or the administrative process to print and post/email reports. Service users must allow for transport and reporting time when ordering tests.
Clinical background:
Screening test for classical galactosaemia (galactose-1-phosphate uridyl transferase deficiency). Other causes of galactosaemia are not diagnosed by this test.
Patients usually present with progressive symptoms after the start of milk feeds, usually starting on day 3 or 4 of life: vomiting, diarrhoea, jaundice, disturbances of liver function, development of bilateral cataracts, sepsis.
If a patient has received a blood transfusion within the previous four months, the test is not suitable for diagnosis of galactosaemia. Urine galactitol is the recommended test. Blood galactose-1-phosphate is an alternative test in these patients.
Specimen container paediatric:
Preferred sample type: Lithium-heparin whole blood (EDTA not to be used)
Blood spots on Guthrie card
Minimum volume paediatric:
0.5 mL blood
Special requirements:
Test is not reliable if patient has had a blood transfusion within four months.
If urgent analysis is required, please contact the metabolic laboratory at the RVI.