Order Code MISMA - GOKEY GALT Galactose-1-Phosphate Uridyltransferase (GALT), Blood
Additional Codes
Mayo Test ID: GALT
Reporting Name
Gal-1-P Uridyltransferase, RBCUseful For
Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia
Confirmation of abnormal state newborn screening results
Specimen Type
Whole Blood EDTAAdvisory Information
This test is for enzyme testing only. The preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and follow-up of abnormal newborn screening results is GCT / Galactosemia Reflex, Blood.
This assay is not appropriate for monitoring dietary compliance; see GAL1P / Galactose-1-Phosphate (Gal-1-P), Erythrocytes.
This assay will not detect UDP-galactose 4' epimerase (GALE) deficiency For epimerase deficiency, see GALE / UDP-Galactose 4' Epimerase (GALE), Blood.
This assay will not detect galactokinase deficiency. For galactokinase deficiency, see GALK / Galactokinase, Blood.
Necessary Information
Patient's age is required.
Specimen Required
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Green top (sodium heparin) or yellow top (ACD)
Specimen Volume: 5 mL
Specimen Minimum Volume
2 mL
Specimen Stability Information
Specimen Type | Temperature | Time |
---|---|---|
Whole Blood EDTA | Refrigerated (preferred) | 28 days |
Ambient | 14 days |
Reject Due To
Hemolysis |
Mild OK; Gross reject |
Lipemia |
NA |
Icterus |
NA |
Other |
NA |
Reference Values
≥24.5 nmol/h/mg of hemoglobin
Performing Laboratory

Day(s) and Time(s) Performed
Monday, Wednesday, Friday; 7 a.m. set up (specimen must be received the day prior)
Method Name
Enzyme Reaction Followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
82775
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
GALT | Gal-1-P Uridyltransferase, RBC | In Process |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
8333 | Gal-1-P Uridyltransferase, RBC | 24082-0 |
2296 | Interpretation (GALT) | 59462-2 |
58115 | Reviewed By | 18771-6 |
Special Instructions
Testing Algorithm
See Galactosemia Testing Algorithm in Special Instructions.
Forms
1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.
2. Biochemical Genetics Patient Information (T602) in Special Instructions.
3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.