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Gal-1-P-Uridyltransferase

Test Code:

BC6050

Synonym(s):

 

Specimen Container

1. Lithium heparin tube (To be obtained from DPLM Reception, after office hour call extension 1383)
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.

Method

 

Orderable as STAT?

No

Turn Around Time

2 days

Reference Value(s)

 

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

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

Others

Keywords

Gal-1-P-Uridyltransferase BC6050
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