Galactose-1-Phosphate Uridyltransferase Pheno
Label Mnemonic: GALT
Epic Lab Code: LAB3187
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Whole Blood
Specimen Instructions:
Patient's age is required on request form for processing.
Collection Medium:
Pink top tube 6 mL (K2-EDTA)
Minimum:
3 mL whole blood
Turn Around Time:
8 days upon receipt at reference laboratory
Reference Range:
Descriptive report
Interpretive Data:
An interpretive report will be provided.
Comments:
Please print, complete and submit the Informed Consent for Genetic Testing from Mayo Medical Laboratories with the specimen and the A-1a Miscellaneous Request or Epic Req.

Useful for:
1) Determining the biochemical phenotype for galactosemia when enzymatic and molecular results are incongruent.

2) A quantitative galactose-1-phosphate uridyltransferase level (GALT / Galactose-1-Phosphate Uridyltransferase [GALT], Blood) is required for accurate interpretation.

Cautions:
A more comprehensive interpretation can be provided when parental specimens are also submitted for testing.

Since transfusion results in replacement of significant number of red cells, the assay should be deferred for 90 days post-transfusion.
Methodology:
Isoelectric Focusing
CPT Code:
82775