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Test Code GALT Galactose-1-Phosphate Uridyltransferase, Blood

Important Note

Synonym GAL1PS

Testing Algorithm

For more information see Galactosemia Testing Algorithm.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole Blood EDTA


Ordering Guidance


This assay is not appropriate for monitoring dietary compliance. If dietary monitoring is needed, order GAL1P / Galactose-1-Phosphate, Erythrocytes.

 

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 follow-up 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 / Uridine Diphosphate -Galactose 4' Epimerase, Blood.

-To evaluate for GALM deficiency, order GALP / Galactose, Plasma and molecular analysis of the GALM gene.



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


Multiple whole blood tests for galactosemia can be performed on 1 specimen. Prioritize order of testing when submitting specimens. For a list of tests that can be ordered together see Galactosemia-Related Test List.

 

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 Special Container
Whole Blood EDTA Refrigerated (preferred) 28 days
  Ambient  14 days

Reference Values

≥24.5 nmol/h/mg of hemoglobin

Day(s) Performed

Monday, Wednesday, Friday

CPT Code Information

82775

Report Available

4 to 7 days

Reject Due To

Gross hemolysis Reject

Method Name

Enzyme Reaction followed by Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)

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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) is recommended.

3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

Secondary ID

8333