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HelpCatalog ID GALT Enz Galactose-1-Phosphate Uridyltransferase (GALT Enzyme), RBC
Additional Codes
CPOE: Ref Galactose-1-Phosphate Uridyltransferase (GALT Enzyme), RBC
DOE: Ref GALT Enz
Specimen
Lavender or pink K2EDTA tube, collect 7 mL (3 mL minimum) blood on ice, refrigerate
Send whole blood refrigerated
Do not collect if patient has had an RBC transfusion in last 30 days
Rejection Criteria
Serum, plasma, specimens not submitted on ice, room temperature specimens, frozen specimens, specimens older than 3 days, insufficient quantity, unlabelled specimens
Interpretative Information
Initial test to diagnose or rule out galactosemia.
| Genotype | GALT Activity (umol/hr/g Hb) |
|---|---|
| Classic galactosemia (G/G) | Less than or equal to 0.7 |
| Duarte galactosemia (D/G) | 3.1-7.8 |
| Classic galactosemia carrier (G/N) | 6.5-16.2 |
| Duarte homozygous (D/D) | 6.4-16.5 |
| Duarte carrier (D/N) | 12.0-24.0 |
| Normal (N/N) | Greater than or equal to 19.4 |
Performing Lab
ARUP Laboratories
Turn-Around-Time
2-5 days (performed on Monday, Wednesday, and Friday)
Reference Values
Greater than or equal to 19.4 U/g Hb