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HelpTest Code GALTP Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes
Reporting Name
Gal-1-Phos Urdyltrns Phenotype,RBCUseful 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 testing will be automatically performed at an additional charge. However, if previous GALT results are provided, GALT testing will be canceled.
For more information see Galactosemia Testing Algorithm.
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
Whole Blood EDTAOrdering Guidance
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.
For monitoring of dietary compliance, order GAL1P / Galactose-1-Phosphate, Erythrocytes.
Necessary Information
Patient's age is required.
A quantitative galactose-1-phosphate uridyltransferase level (GALT / Galactose-1-Phosphate Uridyltransferase, Blood) is required for accurate interpretation.
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: Lavender top (EDTA)
Specimen Volume: 3 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 |
Special Instructions
Reference Values
An interpretative report will be provided.
Day(s) Performed
Pre-analytical processing: Monday through Saturday
Assay performed: Twice per month, Thursday
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US 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 | 33780-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 80341 | Gal-1-Phos Urdyltrns Phenotype,RBC | 33780-8 |
| 34524 | Reviewed By | 18771-6 |
Report Available
4 to 17 daysMethod Name
Isoelectric Focusing
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.