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Test Code XGALRC Galactose-1-Phosphate Uridyltransferase (GALT), Blood

Additional Codes

XGALRC (MWHC)

GALT (MAYO)

Reporting Name

Gal-1-P Uridyltransferase, RBC

Useful For

Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia

 

Confirmation of abnormal state newborn screening results

Testing Algorithm

See Galactosemia Testing Algorithm in Special Instructions.

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Whole Blood EDTA


Advisory 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

Reference Values

≥24.5 nmol/h/mg of hemoglobin

Day(s) and Time(s) Performed

Monday, Wednesday, Friday; 7 a.m. set up (specimen must be received the day prior)

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 No LOINC Needed

Method Name

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

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.