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Test Mnemonic GALT Galactose-1-Phosphate Uridyltransferase (GALT), Blood

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

GCT / Galactosemia Reflex, Blood is the preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and follow-up of abnormal newborn screening results.

 

For monitoring of dietary compliance, see GAL1P / Galactose-1-Phosphate (Gal-1-P), Erythrocytes.

 

See Galactosemia Testing Algorithm in Special Instructions.

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Whole Blood EDTA


Specimen Required


Container/Tube: 

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium heparin) or yellow top (ACD)

Specimen Volume: 5 mL

Additional Information: Patient's age is required.

Forms: 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.


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)