Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
See Galactosemia Testing Algorithm in Special Instructions for additional information.
This test is for diagnosis of galactokinase (GALK) deficiency and does not detect either galactose-1-phosphate uridyltransferase (GALT) deficiency, the most common cause of galactosemia, or uridine diphosphate-galactose 4' epimerase (GALE) deficiency. In most cases, GALT deficiency should be ruled out prior to evaluating for GALK deficiency.
-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.
-To evaluate GALT deficiency only, order GALT / Galactose-1-Phosphate Uridyltransferase, Blood
-To evaluate for GALE deficiency only, order GALE / UDP-Galactose 4' Epimerase (GALE), Blood
This assay is not appropriate for monitoring dietary compliance. If dietary monitoring is needed, order GAL1P / Galactose-1-Phosphate (Gal-1-P), Erythrocytes.
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.
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 or lithium heparin) or yellow top (ACD)
Specimen Volume: 4 mL
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.
Gross hemolysis | Reject |
Specimen Type | Temperature | Time | Special Container |
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Whole Blood EDTA | Refrigerated (preferred) | 10 days | |
Ambient | 72 hours |