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Test Code XG1PU Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes

Additional Codes

XG1PU (MWHC)

GALTP (MAYO)

Reporting Name

Gal-1-Phos Urdyltrns Phenotype,RBC

Useful For

Determining the biochemical phenotype for galactosemia when enzymatic and molecular results are incongruent

Additional Tests

Test ID Reporting Name Available Separately Always Performed
GALT Gal-1-P Uridyltransferase, RBC Yes Yes

Testing Algorithm

A quantitative galactose-1-phosphate uridyltransferase GALT) level is used in addition to the isoelectric focusing for accurate interpretation. If recent GALT test results are not provided, GALT will be automatically performed at an additional charge. However, if previous GALT results are provided, GALT testing will be cancelled and not charged.

 

See Galactosemia Testing Algorithm in Special Instructions.

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Whole Blood EDTA


Advisory Information


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.



Necessary Information


Patient's age is required.



Specimen Required


Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 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

Descriptive report

Day(s) and Time(s) Performed

Thursday; 9 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

82664

82775

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GALTP Gal-1-Phos Urdyltrns Phenotype,RBC In Process

 

Result ID Test Result Name Result LOINC Value
80341 Gal-1-Phos Urdyltrns Phenotype,RBC 33780-8
34524 Reviewed By No LOINC Needed

Method Name

GALTP: Isoelectric Focusing
GALT: 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.