Gal-1-P-Uridyltransferase

BC6050

Synonym(s):
Specimen Container
1. Lithium heparin tube 
(To be obtained from DPLM Client Services, after office hour call extension 1352)

2. Guthrie card
Specimen Requirement
1. Whole blood (0.5 mL). Do not combine test with other tests.
2. 3 well collected blood spots
Specimen Storage/Transport
1. Do not freeze. Do not spin and separate plasma.
2. Send blood cards in envelope to Lab.
Orderable as Urgent? No
Turn Around Time
2 days
Testing Laboratory Location KKH
Laboratory Biochemical Genetics Lab
Contact Number 6394 8728
Day and Time Performed
Mon – Fri: 0900 hrs – 1800 hrs
Last specimen reciept time is at 1730 hrs.
Orderable on CPOE? Yes
Downtime Form

Biochemical Genetics Lab

Additional Information
Useful For​​The screening test aims to identify homozygote GALT deficient patients.
Clinical Indication​
  • Progressive symptoms after start of milk feeds
  • Vomiting
  • Diarrhoea
  • Jaundice
Interpretation ​​Normal sampls fluoresce brightly at one or two hours.
An activity of <10% must be further investigated. Patients with activity >25% will either be heterozygote or Duarte variants. Normal activity with high total galactose results may require galactose assay to investigate for epimerase or galactokinase deficiency.
 
For URGENT analysis, contact the Biochemical Genetics laboratory at 6394 8728 or the Lead Scientist at 8388 8741 to discuss.
 
Store the whole blood sample in the reception fridge at 4°C if the whole blood is received after office hours.

Change History Notes

  • 09 Feb 2023 05:10 PM

    ​Update specimen container lithium heparin to be obtain at DPLM Client Services

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Last Updated - 27 May 2025