Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: GALT
Galactose-1-Phosphate Uridyltransferase, Blood
Testing Algorithm 
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
See Galactosemia Testing Algorithm in Special Instructions.
Specimen Type Describes the specimen type validated for testing
Advisory Information
This test is for galactose-1-phosphate uridyltransferase (GALT) enzyme testing only. The preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and followup of abnormal newborn screening results is GCT / Galactosemia Reflex, Blood.
This assay will not detect galactokinase (GALK) deficiency or uridine diphosphate-galactose 4' epimerase (GALE) deficiency.
-To evaluate for GALK deficiency, order GALK / Galactokinase, Blood.
-To evaluate for GALE deficiency, order GALE / UDP-Galactose 4' Epimerase, Blood.
This assay is not appropriate for monitoring dietary compliance. If dietary monitoring is needed, order GAL1P / Galactose-1-Phosphate, Erythrocytes.
Necessary Information
Patient's age is required.
Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.Specimen Required Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Multiple whole blood tests for galactosemia can be performed on 1 specimen. Prioritize order of testing when submitting specimens. See Galactosemia-Related Test List in Special Instructions for a list of tests that can be ordered together.
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Green top (sodium heparin) or yellow top (ACD)
Specimen Volume: 5 mL
Special Instructions Library of PDFs including pertinent information and forms related to the test
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602) is recommended, see Special Instructions.
3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.
Specimen Minimum Volume Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Gross hemolysis | Reject |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood EDTA | Refrigerated (preferred) | 28 days | |
| Ambient | 14 days |