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Test Code MISC2MAYOGAL1P Galactose-1-Phosphate, Erythrocytes

Reporting Name

Galactose-1-Phosphate, RBC

Useful For

Monitoring dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase or uridine diphosphate galactose-4-epimerase

Testing Algorithm

See Galactosemia Testing Algorithm in Special Instructions

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole Blood EDTA


Advisory Information


This test is used to monitor dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase (GALT) or uridine diphosphate galactose-4-epimerase (GALE).

 

This test is not appropriate for the diagnosis of galactosemia. 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 test is not appropriate for the diagnosis of epimerase deficiency, the preferred test to evaluate this deficiency is GALE / UDP-Galactose 4' Epimerase, Blood.



Necessary Information


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. See Galactosemia-Related Test List in Special Instructions for a list of tests that can be ordered together.

 

Patient Preparation: Specimens collected following a meal can exhibit postprandial elevations. For infants, collect a specimen immediately prior to feeding to avoid this.

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium heparin)

Specimen Volume: 3 mL


Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood EDTA Refrigerated 72 hours

Reference Values

Reference interval (normal range) : ≤0.9 mg/dL

Therapeutic range: ≤4.9 mg/dL

Day(s) and Time(s) Performed

Thursday; 8 a.m.

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

84378

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GAL1P Galactose-1-Phosphate, RBC 2312-7

 

Result ID Test Result Name Result LOINC Value
24101 Galactose-1-Phosphate, RBC 2312-7

Reject Due To

Gross hemolysis Reject

Method Name

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Forms

1. Biochemical Genetics Patient Information (T602) is recommended, see Special Instructions.

2. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.